Canonical Allele Identifier: CA322524
Gene: WFS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 215387
ClinVar RCV Id: RCV000345927 RCV000490282 RCV000825691 RCV000953870 RCV000987407
dbSNP Id: rs144951440
ExAC: 4:6302757 T / C
gnomAD v2: 4-6302757-T-C
gnomAD v3: 4-6301030-T-C
gnomAD v4: 4-6301030-T-C
MyVariant Identifiers: chr4:g.6302757T>C (hg19) chr4:g.6301030T>C (hg38)
PubMed: PMID:15234338 PMID:17492394 PMID:17517145 PMID:23535966 PMID:23856252 PMID:23990876
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.6301030T>C , CM000666.2:g.6301030T>C GRCh38
NC_000004.11:g.6302757T>C , CM000666.1:g.6302757T>C GRCh37
NC_000004.10:g.6353658T>C NCBI36
NG_011700.1:g.36181T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000682275.1:c.1271T>C ENSP00000507852.1:p.Val424Ala
ENST00000683395.1:c.1212T>C
ENST00000684087.1:c.1235T>C ENSP00000506978.1:p.Val412Ala
ENST00000506362.2:c.986T>C ENSP00000424103.2:p.Val329Ala
ENST00000673642.1:c.894T>C ENSP00000501242.1:p.Cys298=
ENST00000673991.1:c.1271T>C ENSP00000501033.1:p.Val424Ala
ENST00000226760.5:c.1235T>C MANE Select ENSP00000226760.1:p.Val412Ala
ENST00000503569.5:c.1235T>C ENSP00000423337.1:p.Val412Ala
ENST00000507765.1:n.1420T>C
NM_001145853.1:c.1235T>C NP_001139325.1:p.Val412Ala
NM_006005.3:c.1235T>C MANE Select NP_005996.2:p.Val412Ala
XM_017008586.1:c.1244T>C XP_016864075.1:p.Val415Ala
Search 100 bp 5'
Search 100 bp 3'