Canonical Allele Identifier: CA232842
Gene: WFS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 143131
ClinVar RCV Id: RCV000132655 RCV001155662 RCV001155663 RCV001195409
dbSNP Id: rs149865710
ExAC: 4:6302756 G / C
gnomAD v2: 4-6302756-G-C
gnomAD v3: 4-6301029-G-C
gnomAD v4: 4-6301029-G-C
MyVariant Identifiers: chr4:g.6302756G>C (hg19) chr4:g.6302756_6302759delinsCTCT (hg19) chr4:g.6301029G>C (hg38) chr4:g.6301029_6301032delinsCTCT (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.6301029G>C , CM000666.2:g.6301029G>C GRCh38
NC_000004.11:g.6302756G>C , CM000666.1:g.6302756G>C GRCh37
NC_000004.10:g.6353657G>C NCBI36
NG_011700.1:g.36180G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000682275.1:c.1270G>C ENSP00000507852.1:p.Val424Leu
ENST00000683395.1:c.1211G>C
ENST00000684087.1:c.1234G>C ENSP00000506978.1:p.Val412Leu
ENST00000506362.2:c.985G>C ENSP00000424103.2:p.Val329Leu
ENST00000673642.1:c.893G>C ENSP00000501242.1:p.Cys298Ser
ENST00000673991.1:c.1270G>C ENSP00000501033.1:p.Val424Leu
ENST00000226760.5:c.1234G>C MANE Select ENSP00000226760.1:p.Val412Leu
ENST00000503569.5:c.1234G>C ENSP00000423337.1:p.Val412Leu
ENST00000507765.1:n.1419G>C
NM_001145853.1:c.1234G>C NP_001139325.1:p.Val412Leu
NM_006005.3:c.1234G>C MANE Select NP_005996.2:p.Val412Leu
XM_017008586.1:c.1243G>C XP_016864075.1:p.Val415Leu
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