Name: rs546518472
Published: September 21, 2022
License: Open Access

Welcome to the Reference SNP (rs) Report

All alleles are reported in the Forward orientation. Click on the Variant Details tab for details on Genomic Placement, Gene, and Amino Acid changes. HGVS names are in the HGVS tab.

Reference SNP (rs) Report

This page reports data for a single dbSNP Reference SNP variation (RefSNP or rs) from the new redesigned dbSNP build.
Top of the page reports a concise summary for the rs, with more specific details included in the corresponding tabs below.
All alleles are reported in the Forward orientation. Use the Genomic View to inspect the nucleotides flanking the variant, and its neighbors.
For more information see Help documentation.

rs546518472

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr11:47524663 (GRCh38.p14) Help
The anchor position for this RefSNP. Includes all nucleotides potentially affected by this change, thus it can differ from HGVS, which is right-shifted. See here for details.
Alleles: G>A / G>C
Variation Type: SNV Single Nucleotide Variation
Frequency: A=0.00011 (3/28258, 14KJPN)
C=0.00101 (19/18814, ALFA)
A=0.00006 (1/16758, 8.3KJPN) (+ 8 more)
C=0.0009 (6/6404, 1000G_30x)
C=0.0008 (4/5008, 1000G)
C=0.0047 (21/4480, Estonian)
C=0.0018 (7/3854, ALSPAC)
C=0.0019 (7/3708, TWINSUK)
C=0.003 (3/998, GoNL)
C=0.005 (3/600, NorthernSweden)
C=0.005 (1/216, Qatari)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: CELF1 : Intron Variant
Publications: 0 citations
Genomic View: See rs on genome

ALFA Allele Frequency
The ALFA project provide aggregate allele frequency from dbGaP. More information is available on the project page including descriptions, data access, and terms of use.

Release Version: 20230706150541

Population	Group	Sample Size	Ref Allele	Alt Allele
Total	Global	18814	G=0.99899	A=0.00000, C=0.00101
European	Sub	14216	G=0.99873	A=0.00000, C=0.00127
African	Sub	2946	G=1.0000	A=0.0000, C=0.0000
African Others	Sub	114	G=1.000	A=0.000, C=0.000
African American	Sub	2832	G=1.0000	A=0.0000, C=0.0000
Asian	Sub	112	G=1.000	A=0.000, C=0.000
East Asian	Sub	86	G=1.00	A=0.00, C=0.00
Other Asian	Sub	26	G=1.00	A=0.00, C=0.00
Latin American 1	Sub	146	G=1.000	A=0.000, C=0.000
Latin American 2	Sub	610	G=1.000	A=0.000, C=0.000
South Asian	Sub	94	G=1.00	A=0.00, C=0.00
Other	Sub	690	G=0.999	A=0.000, C=0.001

Frequency tab displays a table of the reference and alternate allele frequencies reported by various studies and populations. Table lines, where Population="Global" refer to the entire study population, whereas lines, where Group="Sub", refer to a study-specific population subgroupings (i.e. AFR, CAU, etc.), if available. Frequency for the alternate allele (Alt Allele) is a ratio of samples observed-to-total, where the numerator (observed samples) is the number of chromosomes in the study with the minor allele present (found in "Sample size", where Group="Sub"), and the denominator (total samples) is the total number of all chromosomes in the study for the variant (found in "Sample size", where Group="Study-wide" and Population="Global").

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Study	Population	Group	Sample Size	Ref Allele	Alt Allele
14KJPN	JAPANESE	Study-wide	28258	G=0.99989	A=0.00011
Allele Frequency Aggregator	Total	Global	18814	G=0.99899	A=0.00000, C=0.00101
Allele Frequency Aggregator	European	Sub	14216	G=0.99873	A=0.00000, C=0.00127
Allele Frequency Aggregator	African	Sub	2946	G=1.0000	A=0.0000, C=0.0000
Allele Frequency Aggregator	Other	Sub	690	G=0.999	A=0.000, C=0.001
Allele Frequency Aggregator	Latin American 2	Sub	610	G=1.000	A=0.000, C=0.000
Allele Frequency Aggregator	Latin American 1	Sub	146	G=1.000	A=0.000, C=0.000
Allele Frequency Aggregator	Asian	Sub	112	G=1.000	A=0.000, C=0.000
Allele Frequency Aggregator	South Asian	Sub	94	G=1.00	A=0.00, C=0.00
8.3KJPN	JAPANESE	Study-wide	16758	G=0.99994	A=0.00006
1000Genomes_30x	Global	Study-wide	6404	G=0.9991	C=0.0009
1000Genomes_30x	African	Sub	1786	G=1.0000	C=0.0000
1000Genomes_30x	Europe	Sub	1266	G=0.9953	C=0.0047
1000Genomes_30x	South Asian	Sub	1202	G=1.0000	C=0.0000
1000Genomes_30x	East Asian	Sub	1170	G=1.0000	C=0.0000
1000Genomes_30x	American	Sub	980	G=1.000	C=0.000
1000Genomes	Global	Study-wide	5008	G=0.9992	C=0.0008
1000Genomes	African	Sub	1322	G=1.0000	C=0.0000
1000Genomes	East Asian	Sub	1008	G=1.0000	C=0.0000
1000Genomes	Europe	Sub	1006	G=0.9960	C=0.0040
1000Genomes	South Asian	Sub	978	G=1.000	C=0.000
1000Genomes	American	Sub	694	G=1.000	C=0.000
Genetic variation in the Estonian population	Estonian	Study-wide	4480	G=0.9953	C=0.0047
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	G=0.9982	C=0.0018
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	G=0.9981	C=0.0019
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	G=0.997	C=0.003
Northern Sweden	ACPOP	Study-wide	600	G=0.995	C=0.005
Qatari	Global	Study-wide	216	G=0.995	C=0.005

Variant Details tab shows known variant placements on genomic sequences: chromosomes (NC_), RefSeqGene, pseudogenes or genomic regions (NG_), and in a separate table: on transcripts (NM_) and protein sequences (NP_). The corresponding transcript and protein locations are listed in adjacent lines, along with molecular consequences from Sequence Ontology. When no protein placement is available, only the transcript is listed. Column "Codon[Amino acid]" shows the actual base change in the format of "Reference > Alternate" allele, including the nucleotide codon change in transcripts, and the amino acid change in proteins, respectively, allowing for known ribosomal slippage sites. To view nucleotides adjacent to the variant use the Genomic View at the bottom of the page - zoom into the sequence until the nucleotides around the variant become visible.

Genomic Placements

Sequence name	Change
GRCh38.p14 chr 11	NC_000011.10:g.47524663G>A
GRCh38.p14 chr 11	NC_000011.10:g.47524663G>C
GRCh37.p13 chr 11	NC_000011.9:g.47546215G>A
GRCh37.p13 chr 11	NC_000011.9:g.47546215G>C

Gene: CELF1, CUGBP Elav-like family member 1 (minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
CELF1 transcript variant 3	NM_001025596.3:c.-11+2832… NM_001025596.3:c.-11+28329C>T	N/A	Intron Variant
CELF1 transcript variant 5	NM_001172640.2:c.-11+2832… NM_001172640.2:c.-11+28329C>T	N/A	Intron Variant
CELF1 transcript variant 8	NM_001376370.1:c.-81-2505… NM_001376370.1:c.-81-25059C>T	N/A	Intron Variant
CELF1 transcript variant 9	NM_001376371.1:c.-154+119… NM_001376371.1:c.-154+11957C>T	N/A	Intron Variant
CELF1 transcript variant 10	NM_001376372.1:c.-193-177… NM_001376372.1:c.-193-17766C>T	N/A	Intron Variant
CELF1 transcript variant 11	NM_001376373.1:c.-81-2505… NM_001376373.1:c.-81-25059C>T	N/A	Intron Variant
CELF1 transcript variant 12	NM_001376374.1:c.-81-2505… NM_001376374.1:c.-81-25059C>T	N/A	Intron Variant
CELF1 transcript variant 13	NM_001376375.1:c.-81-2505… NM_001376375.1:c.-81-25059C>T	N/A	Intron Variant
CELF1 transcript variant 14	NM_001376376.1:c.-153-237… NM_001376376.1:c.-153-23731C>T	N/A	Intron Variant
CELF1 transcript variant 15	NM_001376377.1:c.-81-2505… NM_001376377.1:c.-81-25059C>T	N/A	Intron Variant
CELF1 transcript variant 16	NM_001376378.1:c.-154+119… NM_001376378.1:c.-154+11957C>T	N/A	Intron Variant
CELF1 transcript variant 17	NM_001376379.1:c.-81-2505… NM_001376379.1:c.-81-25059C>T	N/A	Intron Variant
CELF1 transcript variant 18	NM_001376380.1:c.-81-2505… NM_001376380.1:c.-81-25059C>T	N/A	Intron Variant
CELF1 transcript variant 19	NM_001376381.1:c.-153-237… NM_001376381.1:c.-153-23731C>T	N/A	Intron Variant
CELF1 transcript variant 22	NM_001376384.1:c.-193-177… NM_001376384.1:c.-193-17766C>T	N/A	Intron Variant
CELF1 transcript variant 23	NM_001376385.1:c.-81-2505… NM_001376385.1:c.-81-25059C>T	N/A	Intron Variant
CELF1 transcript variant 24	NM_001376386.1:c.-81-2505… NM_001376386.1:c.-81-25059C>T	N/A	Intron Variant
CELF1 transcript variant 25	NM_001376387.1:c.-193-177… NM_001376387.1:c.-193-17766C>T	N/A	Intron Variant
CELF1 transcript variant 26	NM_001376388.1:c.-81-2505… NM_001376388.1:c.-81-25059C>T	N/A	Intron Variant
CELF1 transcript variant 27	NM_001376389.1:c.-81-2505… NM_001376389.1:c.-81-25059C>T	N/A	Intron Variant
CELF1 transcript variant 28	NM_001376390.1:c.-81-2505… NM_001376390.1:c.-81-25059C>T	N/A	Intron Variant
CELF1 transcript variant 30	NM_001376393.1:c.-10-3563… NM_001376393.1:c.-10-35639C>T	N/A	Intron Variant
CELF1 transcript variant 31	NM_001376395.1:c.-10-3563… NM_001376395.1:c.-10-35639C>T	N/A	Intron Variant
CELF1 transcript variant 32	NM_001376396.1:c.-11+2832… NM_001376396.1:c.-11+28329C>T	N/A	Intron Variant
CELF1 transcript variant 34	NM_001376399.1:c.-11+2832… NM_001376399.1:c.-11+28329C>T	N/A	Intron Variant
CELF1 transcript variant 37	NM_001376408.1:c.-11+2832… NM_001376408.1:c.-11+28329C>T	N/A	Intron Variant
CELF1 transcript variant 38	NM_001376409.1:c.-122-177… NM_001376409.1:c.-122-17766C>T	N/A	Intron Variant
CELF1 transcript variant 39	NM_001376410.1:c.-11+1195… NM_001376410.1:c.-11+11957C>T	N/A	Intron Variant
CELF1 transcript variant 40	NM_001376411.1:c.-11+1195… NM_001376411.1:c.-11+11957C>T	N/A	Intron Variant
CELF1 transcript variant 41	NM_001376412.1:c.-82-2373… NM_001376412.1:c.-82-23731C>T	N/A	Intron Variant
CELF1 transcript variant 42	NM_001376413.1:c.-11+1195… NM_001376413.1:c.-11+11957C>T	N/A	Intron Variant
CELF1 transcript variant 43	NM_001376414.1:c.-11+2832… NM_001376414.1:c.-11+28329C>T	N/A	Intron Variant
CELF1 transcript variant 45	NM_001376417.1:c.-10-3563… NM_001376417.1:c.-10-35639C>T	N/A	Intron Variant
CELF1 transcript variant 47	NM_001376419.1:c.-10-3563… NM_001376419.1:c.-10-35639C>T	N/A	Intron Variant
CELF1 transcript variant 48	NM_001376420.1:c.-11+2832… NM_001376420.1:c.-11+28329C>T	N/A	Intron Variant
CELF1 transcript variant 49	NM_001376421.1:c.-11+2832… NM_001376421.1:c.-11+28329C>T	N/A	Intron Variant
CELF1 transcript variant 50	NM_001376422.1:c.-10-3563… NM_001376422.1:c.-10-35639C>T	N/A	Intron Variant
CELF1 transcript variant 51	NM_001376423.1:c.-11+2832… NM_001376423.1:c.-11+28329C>T	N/A	Intron Variant
CELF1 transcript variant 52	NM_001376424.1:c.-11+2832… NM_001376424.1:c.-11+28329C>T	N/A	Intron Variant
CELF1 transcript variant 53	NM_001376425.1:c.-82-2373… NM_001376425.1:c.-82-23731C>T	N/A	Intron Variant
CELF1 transcript variant 54	NM_001376426.1:c.-11+1195… NM_001376426.1:c.-11+11957C>T	N/A	Intron Variant
CELF1 transcript variant 55	NM_001376427.1:c.-11+2832… NM_001376427.1:c.-11+28329C>T	N/A	Intron Variant
CELF1 transcript variant 56	NM_001376428.1:c.-11+1195… NM_001376428.1:c.-11+11957C>T	N/A	Intron Variant
CELF1 transcript variant 57	NM_001376429.1:c.-11+1195… NM_001376429.1:c.-11+11957C>T	N/A	Intron Variant
CELF1 transcript variant 59	NM_001376431.1:c.-11+2832… NM_001376431.1:c.-11+28329C>T	N/A	Intron Variant
CELF1 transcript variant 60	NM_001376432.1:c.-11+2832… NM_001376432.1:c.-11+28329C>T	N/A	Intron Variant
CELF1 transcript variant 62	NM_001376434.1:c.-11+2832… NM_001376434.1:c.-11+28329C>T	N/A	Intron Variant
CELF1 transcript variant 63	NM_001376435.1:c.-11+2832… NM_001376435.1:c.-11+28329C>T	N/A	Intron Variant
CELF1 transcript variant 64	NM_001376436.1:c.-11+1195… NM_001376436.1:c.-11+11957C>T	N/A	Intron Variant
CELF1 transcript variant 65	NM_001376437.1:c.-11+2832… NM_001376437.1:c.-11+28329C>T	N/A	Intron Variant
CELF1 transcript variant 66	NM_001376438.1:c.-50-1776… NM_001376438.1:c.-50-17766C>T	N/A	Intron Variant
CELF1 transcript variant 67	NM_001376439.1:c.-82-2373… NM_001376439.1:c.-82-23731C>T	N/A	Intron Variant
CELF1 transcript variant 68	NM_001376440.1:c.-82-2373… NM_001376440.1:c.-82-23731C>T	N/A	Intron Variant
CELF1 transcript variant 71	NM_001376443.1:c.-10-3563… NM_001376443.1:c.-10-35639C>T	N/A	Intron Variant
CELF1 transcript variant 72	NM_001376444.1:c.-11+2832… NM_001376444.1:c.-11+28329C>T	N/A	Intron Variant
CELF1 transcript variant 73	NM_001376445.1:c.-11+2832… NM_001376445.1:c.-11+28329C>T	N/A	Intron Variant
CELF1 transcript variant 74	NM_001376446.1:c.-11+1195… NM_001376446.1:c.-11+11957C>T	N/A	Intron Variant
CELF1 transcript variant 75	NM_001376447.1:c.-11+2832… NM_001376447.1:c.-11+28329C>T	N/A	Intron Variant
CELF1 transcript variant 76	NM_001376448.1:c.-11+1195… NM_001376448.1:c.-11+11957C>T	N/A	Intron Variant
CELF1 transcript variant 77	NM_001376449.1:c.-11+2832… NM_001376449.1:c.-11+28329C>T	N/A	Intron Variant
CELF1 transcript variant 78	NM_001376450.1:c.-11+2832… NM_001376450.1:c.-11+28329C>T	N/A	Intron Variant
CELF1 transcript variant 80	NM_001376452.1:c.-11+2832… NM_001376452.1:c.-11+28329C>T	N/A	Intron Variant
CELF1 transcript variant 81	NM_001376453.1:c.-81-2505… NM_001376453.1:c.-81-25059C>T	N/A	Intron Variant
CELF1 transcript variant 82	NM_001376454.1:c.-11+2832… NM_001376454.1:c.-11+28329C>T	N/A	Intron Variant
CELF1 transcript variant 84	NM_001376456.1:c.-11+2832… NM_001376456.1:c.-11+28329C>T	N/A	Intron Variant
CELF1 transcript variant 85	NM_001376457.1:c.-11+1195… NM_001376457.1:c.-11+11957C>T	N/A	Intron Variant
CELF1 transcript variant 86	NM_001376458.1:c.-11+1195… NM_001376458.1:c.-11+11957C>T	N/A	Intron Variant
CELF1 transcript variant 87	NM_001376459.1:c.-11+2832… NM_001376459.1:c.-11+28329C>T	N/A	Intron Variant
CELF1 transcript variant 89	NM_001376461.1:c.-11+2832… NM_001376461.1:c.-11+28329C>T	N/A	Intron Variant
CELF1 transcript variant 90	NM_001376462.1:c.-11+2832… NM_001376462.1:c.-11+28329C>T	N/A	Intron Variant
CELF1 transcript variant 91	NM_001376463.1:c.-308+283… NM_001376463.1:c.-308+28329C>T	N/A	Intron Variant
CELF1 transcript variant 1	NM_006560.4:c.-11+28329C>T	N/A	Intron Variant
CELF1 transcript variant 6	NM_001330272.2:c.-293=	N/A	5 Prime UTR Variant
CELF1 transcript variant 33	NM_001376397.1:c.-222=	N/A	5 Prime UTR Variant
CELF1 transcript variant 79	NM_001376451.1:c.-293=	N/A	5 Prime UTR Variant
CELF1 transcript variant 20	NM_001376382.1:c.-293=	N/A	5 Prime UTR Variant
CELF1 transcript variant 58	NM_001376430.1:c.-222=	N/A	5 Prime UTR Variant
CELF1 transcript variant 88	NM_001376460.1:c.-150=	N/A	5 Prime UTR Variant
CELF1 transcript variant 7	NM_001376369.1:c.-293=	N/A	5 Prime UTR Variant
CELF1 transcript variant 61	NM_001376433.1:c.-150=	N/A	5 Prime UTR Variant
CELF1 transcript variant 83	NM_001376455.1:c.-293=	N/A	5 Prime UTR Variant
CELF1 transcript variant 44	NM_001376415.1:c.-150=	N/A	5 Prime UTR Variant
CELF1 transcript variant 70	NM_001376442.1:c.-150=	N/A	5 Prime UTR Variant
CELF1 transcript variant 21	NM_001376383.1:c.-333=	N/A	5 Prime UTR Variant
CELF1 transcript variant 46	NM_001376418.1:c.-150=	N/A	5 Prime UTR Variant
CELF1 transcript variant 29	NM_001376391.1:c.-293=	N/A	5 Prime UTR Variant
CELF1 transcript variant 36	NM_001376407.1:c.-150=	N/A	5 Prime UTR Variant
CELF1 transcript variant 69	NM_001376441.1:c.-222=	N/A	5 Prime UTR Variant
CELF1 transcript variant 35	NM_001376406.1:c.-150=	N/A	5 Prime UTR Variant
CELF1 transcript variant 4	NM_001172639.2:c.	N/A	Genic Upstream Transcript Variant
CELF1 transcript variant 2	NM_198700.3:c.	N/A	Genic Upstream Transcript Variant
CELF1 transcript variant X2	XM_047426268.1:c.-4084-17… XM_047426268.1:c.-4084-17766C>T	N/A	Intron Variant
CELF1 transcript variant X5	XM_047426270.1:c.-193-177… XM_047426270.1:c.-193-17766C>T	N/A	Intron Variant
CELF1 transcript variant X6	XM_047426271.1:c.-286-177… XM_047426271.1:c.-286-17766C>T	N/A	Intron Variant
CELF1 transcript variant X7	XM_047426272.1:c.-283-177… XM_047426272.1:c.-283-17766C>T	N/A	Intron Variant
CELF1 transcript variant X8	XM_047426273.1:c.-81-2505… XM_047426273.1:c.-81-25059C>T	N/A	Intron Variant
CELF1 transcript variant X9	XM_047426274.1:c.-81-2505… XM_047426274.1:c.-81-25059C>T	N/A	Intron Variant
CELF1 transcript variant X10	XM_047426275.1:c.-81-2505… XM_047426275.1:c.-81-25059C>T	N/A	Intron Variant
CELF1 transcript variant X11	XM_047426276.1:c.-81-2505… XM_047426276.1:c.-81-25059C>T	N/A	Intron Variant
CELF1 transcript variant X17	XM_047426281.1:c.-50-1776… XM_047426281.1:c.-50-17766C>T	N/A	Intron Variant
CELF1 transcript variant X1	XM_047426267.1:c.-4224=	N/A	5 Prime UTR Variant
CELF1 transcript variant X4	XM_017017101.2:c.-333=	N/A	5 Prime UTR Variant
CELF1 transcript variant X14	XM_011519857.2:c.-150=	N/A	5 Prime UTR Variant
CELF1 transcript variant X16	XM_047426280.1:c.-190=	N/A	5 Prime UTR Variant
CELF1 transcript variant X3	XM_047426269.1:c.	N/A	Genic Upstream Transcript Variant
CELF1 transcript variant X12	XM_047426277.1:c.	N/A	Genic Upstream Transcript Variant
CELF1 transcript variant X13	XM_047426278.1:c.	N/A	Genic Upstream Transcript Variant
CELF1 transcript variant X15	XM_047426279.1:c.	N/A	Genic Upstream Transcript Variant
CELF1 transcript variant X18	XM_047426282.1:c.	N/A	Genic Upstream Transcript Variant
CELF1 transcript variant X19	XM_047426283.1:c.	N/A	Genic Upstream Transcript Variant
CELF1 transcript variant X20	XM_047426284.1:c.	N/A	Genic Upstream Transcript Variant
CELF1 transcript variant X21	XM_047426285.1:c.	N/A	Genic Upstream Transcript Variant
CELF1 transcript variant X22	XM_047426286.1:c.	N/A	Genic Upstream Transcript Variant
CELF1 transcript variant X23	XM_047426287.1:c.	N/A	Genic Upstream Transcript Variant
CELF1 transcript variant X24	XM_047426288.1:c.	N/A	Genic Upstream Transcript Variant
CELF1 transcript variant X25	XM_047426289.1:c.	N/A	Genic Upstream Transcript Variant
CELF1 transcript variant X26	XM_047426290.1:c.	N/A	Genic Upstream Transcript Variant
CELF1 transcript variant X27	XM_047426291.1:c.	N/A	Genic Upstream Transcript Variant
CELF1 transcript variant X28	XM_047426292.1:c.	N/A	Genic Upstream Transcript Variant
CELF1 transcript variant X29	XM_047426293.1:c.	N/A	Genic Upstream Transcript Variant
CELF1 transcript variant X30	XM_047426294.1:c.	N/A	Genic Upstream Transcript Variant

Clinical Significance tab shows a list of clinical significance entries from ClinVar associated with the variation, per allele. Click on the RCV accession (i.e. RCV000001615.2) or Allele ID (i.e. 12274) to access full ClinVar report.

Not Reported in ClinVar

Aliases tab displays HGVS names representing the variant placements and allele changes on genomic, transcript and protein sequences, per allele. HGVS name is an expression for reporting sequence accession and version, sequence type, position, and allele change. The column "Note" can have two values: "diff" means that there is a difference between the reference allele (variation interval) at the placement reported in HGVS name and the reference alleles reported in other HGVS names, and "rev" means that the sequence of this variation interval at the placement reported in HGVS name is in reverse orientation to the sequence(s) of this variation in other HGVS names not labeled as "rev".

Placement	G=	A	C
GRCh38.p14 chr 11	NC_000011.10:g.47524663=	NC_000011.10:g.47524663G>A	NC_000011.10:g.47524663G>C
GRCh37.p13 chr 11	NC_000011.9:g.47546215=	NC_000011.9:g.47546215G>A	NC_000011.9:g.47546215G>C
CELF1 transcript variant X4	XM_017017101.2:c.-333=	XM_017017101.2:c.-333C>T	XM_017017101.2:c.-333C>G
CELF1 transcript variant X1	XM_017017101.1:c.-333=	XM_017017101.1:c.-333C>T	XM_017017101.1:c.-333C>G
CELF1 transcript variant 6	NM_001330272.2:c.-293=	NM_001330272.2:c.-293C>T	NM_001330272.2:c.-293C>G
CELF1 transcript variant 6	NM_001330272.1:c.-293=	NM_001330272.1:c.-293C>T	NM_001330272.1:c.-293C>G
CELF1 transcript variant X14	XM_011519857.2:c.-150=	XM_011519857.2:c.-150C>T	XM_011519857.2:c.-150C>G
CELF1 transcript variant X19	XM_011519857.1:c.-150=	XM_011519857.1:c.-150C>T	XM_011519857.1:c.-150C>G
CELF1 transcript variant X1	XM_047426267.1:c.-4224=	XM_047426267.1:c.-4224C>T	XM_047426267.1:c.-4224C>G
CELF1 transcript variant 21	NM_001376383.1:c.-333=	NM_001376383.1:c.-333C>T	NM_001376383.1:c.-333C>G
CELF1 transcript variant 79	NM_001376451.1:c.-293=	NM_001376451.1:c.-293C>T	NM_001376451.1:c.-293C>G
CELF1 transcript variant 7	NM_001376369.1:c.-293=	NM_001376369.1:c.-293C>T	NM_001376369.1:c.-293C>G
CELF1 transcript variant 29	NM_001376391.1:c.-293=	NM_001376391.1:c.-293C>T	NM_001376391.1:c.-293C>G
CELF1 transcript variant 20	NM_001376382.1:c.-293=	NM_001376382.1:c.-293C>T	NM_001376382.1:c.-293C>G
CELF1 transcript variant 33	NM_001376397.1:c.-222=	NM_001376397.1:c.-222C>T	NM_001376397.1:c.-222C>G
CELF1 transcript variant X16	XM_047426280.1:c.-190=	XM_047426280.1:c.-190C>T	XM_047426280.1:c.-190C>G
CELF1 transcript variant 83	NM_001376455.1:c.-293=	NM_001376455.1:c.-293C>T	NM_001376455.1:c.-293C>G
CELF1 transcript variant 44	NM_001376415.1:c.-150=	NM_001376415.1:c.-150C>T	NM_001376415.1:c.-150C>G
CELF1 transcript variant 70	NM_001376442.1:c.-150=	NM_001376442.1:c.-150C>T	NM_001376442.1:c.-150C>G
CELF1 transcript variant 58	NM_001376430.1:c.-222=	NM_001376430.1:c.-222C>T	NM_001376430.1:c.-222C>G
CELF1 transcript variant 69	NM_001376441.1:c.-222=	NM_001376441.1:c.-222C>T	NM_001376441.1:c.-222C>G
CELF1 transcript variant 35	NM_001376406.1:c.-150=	NM_001376406.1:c.-150C>T	NM_001376406.1:c.-150C>G
CELF1 transcript variant 46	NM_001376418.1:c.-150=	NM_001376418.1:c.-150C>T	NM_001376418.1:c.-150C>G
CELF1 transcript variant 61	NM_001376433.1:c.-150=	NM_001376433.1:c.-150C>T	NM_001376433.1:c.-150C>G
CELF1 transcript variant 88	NM_001376460.1:c.-150=	NM_001376460.1:c.-150C>T	NM_001376460.1:c.-150C>G
CELF1 transcript variant 36	NM_001376407.1:c.-150=	NM_001376407.1:c.-150C>T	NM_001376407.1:c.-150C>G
CELF1 transcript variant 3	NM_001025596.3:c.-11+28329=	NM_001025596.3:c.-11+28329C>T	NM_001025596.3:c.-11+28329C>G
CELF1 transcript variant 5	NM_001172640.2:c.-11+28329=	NM_001172640.2:c.-11+28329C>T	NM_001172640.2:c.-11+28329C>G
CELF1 transcript variant 8	NM_001376370.1:c.-81-25059=	NM_001376370.1:c.-81-25059C>T	NM_001376370.1:c.-81-25059C>G
CELF1 transcript variant 9	NM_001376371.1:c.-154+11957=	NM_001376371.1:c.-154+11957C>T	NM_001376371.1:c.-154+11957C>G
CELF1 transcript variant 10	NM_001376372.1:c.-193-17766=	NM_001376372.1:c.-193-17766C>T	NM_001376372.1:c.-193-17766C>G
CELF1 transcript variant 11	NM_001376373.1:c.-81-25059=	NM_001376373.1:c.-81-25059C>T	NM_001376373.1:c.-81-25059C>G
CELF1 transcript variant 12	NM_001376374.1:c.-81-25059=	NM_001376374.1:c.-81-25059C>T	NM_001376374.1:c.-81-25059C>G
CELF1 transcript variant 13	NM_001376375.1:c.-81-25059=	NM_001376375.1:c.-81-25059C>T	NM_001376375.1:c.-81-25059C>G
CELF1 transcript variant 14	NM_001376376.1:c.-153-23731=	NM_001376376.1:c.-153-23731C>T	NM_001376376.1:c.-153-23731C>G
CELF1 transcript variant 15	NM_001376377.1:c.-81-25059=	NM_001376377.1:c.-81-25059C>T	NM_001376377.1:c.-81-25059C>G
CELF1 transcript variant 16	NM_001376378.1:c.-154+11957=	NM_001376378.1:c.-154+11957C>T	NM_001376378.1:c.-154+11957C>G
CELF1 transcript variant 17	NM_001376379.1:c.-81-25059=	NM_001376379.1:c.-81-25059C>T	NM_001376379.1:c.-81-25059C>G
CELF1 transcript variant 18	NM_001376380.1:c.-81-25059=	NM_001376380.1:c.-81-25059C>T	NM_001376380.1:c.-81-25059C>G
CELF1 transcript variant 19	NM_001376381.1:c.-153-23731=	NM_001376381.1:c.-153-23731C>T	NM_001376381.1:c.-153-23731C>G
CELF1 transcript variant 22	NM_001376384.1:c.-193-17766=	NM_001376384.1:c.-193-17766C>T	NM_001376384.1:c.-193-17766C>G
CELF1 transcript variant 23	NM_001376385.1:c.-81-25059=	NM_001376385.1:c.-81-25059C>T	NM_001376385.1:c.-81-25059C>G
CELF1 transcript variant 24	NM_001376386.1:c.-81-25059=	NM_001376386.1:c.-81-25059C>T	NM_001376386.1:c.-81-25059C>G
CELF1 transcript variant 25	NM_001376387.1:c.-193-17766=	NM_001376387.1:c.-193-17766C>T	NM_001376387.1:c.-193-17766C>G
CELF1 transcript variant 26	NM_001376388.1:c.-81-25059=	NM_001376388.1:c.-81-25059C>T	NM_001376388.1:c.-81-25059C>G
CELF1 transcript variant 27	NM_001376389.1:c.-81-25059=	NM_001376389.1:c.-81-25059C>T	NM_001376389.1:c.-81-25059C>G
CELF1 transcript variant 28	NM_001376390.1:c.-81-25059=	NM_001376390.1:c.-81-25059C>T	NM_001376390.1:c.-81-25059C>G
CELF1 transcript variant 30	NM_001376393.1:c.-10-35639=	NM_001376393.1:c.-10-35639C>T	NM_001376393.1:c.-10-35639C>G
CELF1 transcript variant 31	NM_001376395.1:c.-10-35639=	NM_001376395.1:c.-10-35639C>T	NM_001376395.1:c.-10-35639C>G
CELF1 transcript variant 32	NM_001376396.1:c.-11+28329=	NM_001376396.1:c.-11+28329C>T	NM_001376396.1:c.-11+28329C>G
CELF1 transcript variant 34	NM_001376399.1:c.-11+28329=	NM_001376399.1:c.-11+28329C>T	NM_001376399.1:c.-11+28329C>G
CELF1 transcript variant 37	NM_001376408.1:c.-11+28329=	NM_001376408.1:c.-11+28329C>T	NM_001376408.1:c.-11+28329C>G
CELF1 transcript variant 38	NM_001376409.1:c.-122-17766=	NM_001376409.1:c.-122-17766C>T	NM_001376409.1:c.-122-17766C>G
CELF1 transcript variant 39	NM_001376410.1:c.-11+11957=	NM_001376410.1:c.-11+11957C>T	NM_001376410.1:c.-11+11957C>G
CELF1 transcript variant 40	NM_001376411.1:c.-11+11957=	NM_001376411.1:c.-11+11957C>T	NM_001376411.1:c.-11+11957C>G
CELF1 transcript variant 41	NM_001376412.1:c.-82-23731=	NM_001376412.1:c.-82-23731C>T	NM_001376412.1:c.-82-23731C>G
CELF1 transcript variant 42	NM_001376413.1:c.-11+11957=	NM_001376413.1:c.-11+11957C>T	NM_001376413.1:c.-11+11957C>G
CELF1 transcript variant 43	NM_001376414.1:c.-11+28329=	NM_001376414.1:c.-11+28329C>T	NM_001376414.1:c.-11+28329C>G
CELF1 transcript variant 45	NM_001376417.1:c.-10-35639=	NM_001376417.1:c.-10-35639C>T	NM_001376417.1:c.-10-35639C>G
CELF1 transcript variant 47	NM_001376419.1:c.-10-35639=	NM_001376419.1:c.-10-35639C>T	NM_001376419.1:c.-10-35639C>G
CELF1 transcript variant 48	NM_001376420.1:c.-11+28329=	NM_001376420.1:c.-11+28329C>T	NM_001376420.1:c.-11+28329C>G
CELF1 transcript variant 49	NM_001376421.1:c.-11+28329=	NM_001376421.1:c.-11+28329C>T	NM_001376421.1:c.-11+28329C>G
CELF1 transcript variant 50	NM_001376422.1:c.-10-35639=	NM_001376422.1:c.-10-35639C>T	NM_001376422.1:c.-10-35639C>G
CELF1 transcript variant 51	NM_001376423.1:c.-11+28329=	NM_001376423.1:c.-11+28329C>T	NM_001376423.1:c.-11+28329C>G
CELF1 transcript variant 52	NM_001376424.1:c.-11+28329=	NM_001376424.1:c.-11+28329C>T	NM_001376424.1:c.-11+28329C>G
CELF1 transcript variant 53	NM_001376425.1:c.-82-23731=	NM_001376425.1:c.-82-23731C>T	NM_001376425.1:c.-82-23731C>G
CELF1 transcript variant 54	NM_001376426.1:c.-11+11957=	NM_001376426.1:c.-11+11957C>T	NM_001376426.1:c.-11+11957C>G
CELF1 transcript variant 55	NM_001376427.1:c.-11+28329=	NM_001376427.1:c.-11+28329C>T	NM_001376427.1:c.-11+28329C>G
CELF1 transcript variant 56	NM_001376428.1:c.-11+11957=	NM_001376428.1:c.-11+11957C>T	NM_001376428.1:c.-11+11957C>G
CELF1 transcript variant 57	NM_001376429.1:c.-11+11957=	NM_001376429.1:c.-11+11957C>T	NM_001376429.1:c.-11+11957C>G
CELF1 transcript variant 59	NM_001376431.1:c.-11+28329=	NM_001376431.1:c.-11+28329C>T	NM_001376431.1:c.-11+28329C>G
CELF1 transcript variant 60	NM_001376432.1:c.-11+28329=	NM_001376432.1:c.-11+28329C>T	NM_001376432.1:c.-11+28329C>G
CELF1 transcript variant 62	NM_001376434.1:c.-11+28329=	NM_001376434.1:c.-11+28329C>T	NM_001376434.1:c.-11+28329C>G
CELF1 transcript variant 63	NM_001376435.1:c.-11+28329=	NM_001376435.1:c.-11+28329C>T	NM_001376435.1:c.-11+28329C>G
CELF1 transcript variant 64	NM_001376436.1:c.-11+11957=	NM_001376436.1:c.-11+11957C>T	NM_001376436.1:c.-11+11957C>G
CELF1 transcript variant 65	NM_001376437.1:c.-11+28329=	NM_001376437.1:c.-11+28329C>T	NM_001376437.1:c.-11+28329C>G
CELF1 transcript variant 66	NM_001376438.1:c.-50-17766=	NM_001376438.1:c.-50-17766C>T	NM_001376438.1:c.-50-17766C>G
CELF1 transcript variant 67	NM_001376439.1:c.-82-23731=	NM_001376439.1:c.-82-23731C>T	NM_001376439.1:c.-82-23731C>G
CELF1 transcript variant 68	NM_001376440.1:c.-82-23731=	NM_001376440.1:c.-82-23731C>T	NM_001376440.1:c.-82-23731C>G
CELF1 transcript variant 71	NM_001376443.1:c.-10-35639=	NM_001376443.1:c.-10-35639C>T	NM_001376443.1:c.-10-35639C>G
CELF1 transcript variant 72	NM_001376444.1:c.-11+28329=	NM_001376444.1:c.-11+28329C>T	NM_001376444.1:c.-11+28329C>G
CELF1 transcript variant 73	NM_001376445.1:c.-11+28329=	NM_001376445.1:c.-11+28329C>T	NM_001376445.1:c.-11+28329C>G
CELF1 transcript variant 74	NM_001376446.1:c.-11+11957=	NM_001376446.1:c.-11+11957C>T	NM_001376446.1:c.-11+11957C>G
CELF1 transcript variant 75	NM_001376447.1:c.-11+28329=	NM_001376447.1:c.-11+28329C>T	NM_001376447.1:c.-11+28329C>G
CELF1 transcript variant 76	NM_001376448.1:c.-11+11957=	NM_001376448.1:c.-11+11957C>T	NM_001376448.1:c.-11+11957C>G
CELF1 transcript variant 77	NM_001376449.1:c.-11+28329=	NM_001376449.1:c.-11+28329C>T	NM_001376449.1:c.-11+28329C>G
CELF1 transcript variant 78	NM_001376450.1:c.-11+28329=	NM_001376450.1:c.-11+28329C>T	NM_001376450.1:c.-11+28329C>G
CELF1 transcript variant 80	NM_001376452.1:c.-11+28329=	NM_001376452.1:c.-11+28329C>T	NM_001376452.1:c.-11+28329C>G
CELF1 transcript variant 81	NM_001376453.1:c.-81-25059=	NM_001376453.1:c.-81-25059C>T	NM_001376453.1:c.-81-25059C>G
CELF1 transcript variant 82	NM_001376454.1:c.-11+28329=	NM_001376454.1:c.-11+28329C>T	NM_001376454.1:c.-11+28329C>G
CELF1 transcript variant 84	NM_001376456.1:c.-11+28329=	NM_001376456.1:c.-11+28329C>T	NM_001376456.1:c.-11+28329C>G
CELF1 transcript variant 85	NM_001376457.1:c.-11+11957=	NM_001376457.1:c.-11+11957C>T	NM_001376457.1:c.-11+11957C>G
CELF1 transcript variant 86	NM_001376458.1:c.-11+11957=	NM_001376458.1:c.-11+11957C>T	NM_001376458.1:c.-11+11957C>G
CELF1 transcript variant 87	NM_001376459.1:c.-11+28329=	NM_001376459.1:c.-11+28329C>T	NM_001376459.1:c.-11+28329C>G
CELF1 transcript variant 89	NM_001376461.1:c.-11+28329=	NM_001376461.1:c.-11+28329C>T	NM_001376461.1:c.-11+28329C>G
CELF1 transcript variant 90	NM_001376462.1:c.-11+28329=	NM_001376462.1:c.-11+28329C>T	NM_001376462.1:c.-11+28329C>G
CELF1 transcript variant 91	NM_001376463.1:c.-308+28329=	NM_001376463.1:c.-308+28329C>T	NM_001376463.1:c.-308+28329C>G
CELF1 transcript variant 1	NM_006560.3:c.-11+28329=	NM_006560.3:c.-11+28329C>T	NM_006560.3:c.-11+28329C>G
CELF1 transcript variant 1	NM_006560.4:c.-11+28329=	NM_006560.4:c.-11+28329C>T	NM_006560.4:c.-11+28329C>G
CELF1 transcript variant X2	XM_047426268.1:c.-4084-17766=	XM_047426268.1:c.-4084-17766C>T	XM_047426268.1:c.-4084-17766C>G
CELF1 transcript variant X5	XM_047426270.1:c.-193-17766=	XM_047426270.1:c.-193-17766C>T	XM_047426270.1:c.-193-17766C>G
CELF1 transcript variant X6	XM_047426271.1:c.-286-17766=	XM_047426271.1:c.-286-17766C>T	XM_047426271.1:c.-286-17766C>G
CELF1 transcript variant X7	XM_047426272.1:c.-283-17766=	XM_047426272.1:c.-283-17766C>T	XM_047426272.1:c.-283-17766C>G
CELF1 transcript variant X8	XM_047426273.1:c.-81-25059=	XM_047426273.1:c.-81-25059C>T	XM_047426273.1:c.-81-25059C>G
CELF1 transcript variant X9	XM_047426274.1:c.-81-25059=	XM_047426274.1:c.-81-25059C>T	XM_047426274.1:c.-81-25059C>G
CELF1 transcript variant X10	XM_047426275.1:c.-81-25059=	XM_047426275.1:c.-81-25059C>T	XM_047426275.1:c.-81-25059C>G
CELF1 transcript variant X11	XM_047426276.1:c.-81-25059=	XM_047426276.1:c.-81-25059C>T	XM_047426276.1:c.-81-25059C>G
CELF1 transcript variant X17	XM_047426281.1:c.-50-17766=	XM_047426281.1:c.-50-17766C>T	XM_047426281.1:c.-50-17766C>G

Submissions tab displays variations originally submitted to dbSNP, now supporting this RefSNP cluster (rs). We display Submitter handle, Submission identifier, Date and Build number, when the submission appeared for the first time. Direct submissions to dbSNP have Submission ID in the form of an ss-prefixed number (ss#). Other supporting variations are listed in the table without ss#.

23 SubSNP, 15 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	SSIP	ss926805120	Aug 21, 2014 (142)
2	EVA-GONL	ss988496731	Aug 21, 2014 (142)
3	1000GENOMES	ss1341171040	Aug 21, 2014 (142)
4	EVA_DECODE	ss1598172632	Apr 01, 2015 (144)
5	EVA_UK10K_ALSPAC	ss1626550817	Apr 01, 2015 (144)
6	EVA_UK10K_TWINSUK	ss1669544850	Apr 01, 2015 (144)
7	WEILL_CORNELL_DGM	ss1931853225	Feb 12, 2016 (147)
8	HUMAN_LONGEVITY	ss2182369068	Dec 20, 2016 (150)
9	GNOMAD	ss2899298160	Nov 08, 2017 (151)
10	SWEGEN	ss3008028344	Nov 08, 2017 (151)
11	EGCUT_WGS	ss3675437523	Jul 13, 2019 (153)
12	ACPOP	ss3738158370	Jul 13, 2019 (153)
13	TOPMED	ss4884406888	Apr 27, 2021 (155)
14	TOPMED	ss4884406889	Apr 27, 2021 (155)
15	TOMMO_GENOMICS	ss5201857025	Apr 27, 2021 (155)
16	1000G_HIGH_COVERAGE	ss5287317777	Oct 17, 2022 (156)
17	EVA	ss5399421323	Oct 17, 2022 (156)
18	HUGCELL_USP	ss5482530986	Oct 17, 2022 (156)
19	1000G_HIGH_COVERAGE	ss5582930510	Oct 17, 2022 (156)
20	TOMMO_GENOMICS	ss5748945876	Oct 17, 2022 (156)
21	EVA	ss5836624459	Oct 17, 2022 (156)
22	EVA	ss5919886859	Oct 17, 2022 (156)
23	EVA	ss5942488990	Oct 17, 2022 (156)
24	1000Genomes	NC_000011.9 - 47546215	Oct 12, 2018 (152)
25	1000Genomes_30x	NC_000011.10 - 47524663	Oct 17, 2022 (156)
26	The Avon Longitudinal Study of Parents and Children	NC_000011.9 - 47546215	Oct 12, 2018 (152)
27	Genetic variation in the Estonian population	NC_000011.9 - 47546215	Oct 12, 2018 (152)
28	gnomAD - Genomes Submission ignored due to conflicting rows: Row 378953130 (NC_000011.10:47524662:G:A 2/140240) Row 378953131 (NC_000011.10:47524662:G:C 254/140240)	-	Apr 27, 2021 (155)
29	gnomAD - Genomes Submission ignored due to conflicting rows: Row 378953130 (NC_000011.10:47524662:G:A 2/140240) Row 378953131 (NC_000011.10:47524662:G:C 254/140240)	-	Apr 27, 2021 (155)
30	Genome of the Netherlands Release 5	NC_000011.9 - 47546215	Apr 26, 2020 (154)
31	Northern Sweden	NC_000011.9 - 47546215	Jul 13, 2019 (153)
32	Qatari	NC_000011.9 - 47546215	Apr 26, 2020 (154)
33	8.3KJPN	NC_000011.9 - 47546215	Apr 27, 2021 (155)
34	14KJPN	NC_000011.10 - 47524663	Oct 17, 2022 (156)
35	TopMed Submission ignored due to conflicting rows: Row 99952544 (NC_000011.10:47524662:G:A 11/264690) Row 99952545 (NC_000011.10:47524662:G:C 447/264690)	-	Apr 27, 2021 (155)
36	TopMed Submission ignored due to conflicting rows: Row 99952544 (NC_000011.10:47524662:G:A 11/264690) Row 99952545 (NC_000011.10:47524662:G:C 447/264690)	-	Apr 27, 2021 (155)
37	UK 10K study - Twins	NC_000011.9 - 47546215	Oct 12, 2018 (152)
38	ALFA	NC_000011.10 - 47524663	Apr 27, 2021 (155)

History tab displays RefSNPs (Associated ID) from previous builds (Build) that now support the current RefSNP, and the dates, when the history was updated for each Associated ID (History Updated).

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
59826332, ss5201857025	NC_000011.9:47546214:G:A	NC_000011.10:47524662:G:A	(self)
82782980, 13619000374, ss2182369068, ss4884406888, ss5748945876	NC_000011.10:47524662:G:A	NC_000011.10:47524662:G:A	(self)
ss1598172632	NC_000011.8:47502790:G:C	NC_000011.10:47524662:G:C	(self)
53692398, 29832573, 21175771, 13308679, 11443235, 13895155, 29832573, ss926805120, ss988496731, ss1341171040, ss1626550817, ss1669544850, ss1931853225, ss2899298160, ss3008028344, ss3675437523, ss3738158370, ss5399421323, ss5836624459, ss5942488990	NC_000011.9:47546214:G:C	NC_000011.10:47524662:G:C	(self)
70456445, 13619000374, ss2182369068, ss4884406889, ss5287317777, ss5482530986, ss5582930510, ss5919886859	NC_000011.10:47524662:G:C	NC_000011.10:47524662:G:C	(self)

Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.

No publications for rs546518472

The Flanks tab provides retrieving flanking sequences of a SNP on all molecules that have placements.

Genome context:

Select flank length:

Genomic regions, transcripts, and products
Top▲ Help
NCBI Graphical Sequence Viewer display of the genomic region, transcripts and protein products for the reported RefSNP (rs).
Use the zoom option to view the nucleotides around the RefSNP and find other neighboring RefSNPs.
Visit Sequence Viewer for help with navigating inside the display and modifying the selection of displayed data tracks.

Choose placement

dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

Reference SNP (rs) Report

rs546518472