Canonical Allele Identifier: CA285653
Gene: WFS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 95323
ClinVar RCV Id: RCV000081340 RCV000301562 RCV000361228 RCV000872722 RCV001174427 RCV002464007 RCV004019566
dbSNP Id: rs71578980
ExAC: 4:6303878 G / A
gnomAD v2: 4-6303878-G-A
gnomAD v3: 4-6302151-G-A
gnomAD v4: 4-6302151-G-A
MyVariant Identifiers: chr4:g.6303878G>A (hg19) chr4:g.6302151G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.6302151G>A , CM000666.2:g.6302151G>A GRCh38
NC_000004.11:g.6303878G>A , CM000666.1:g.6303878G>A GRCh37
NC_000004.10:g.6354779G>A NCBI36
NG_011700.1:g.37302G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000682275.1:c.2392G>A ENSP00000507852.1:p.Gly798Ser
ENST00000683395.1:c.2333G>A
ENST00000684087.1:c.2356G>A ENSP00000506978.1:p.Gly786Ser
ENST00000506362.2:c.2107G>A ENSP00000424103.2:p.Gly703Ser
ENST00000673991.1:c.2392G>A ENSP00000501033.1:p.Gly798Ser
ENST00000226760.5:c.2356G>A MANE Select ENSP00000226760.1:p.Gly786Ser
ENST00000503569.5:c.2356G>A ENSP00000423337.1:p.Gly786Ser
ENST00000507765.1:n.2541G>A
NM_001145853.1:c.2356G>A NP_001139325.1:p.Gly786Ser
NM_006005.3:c.2356G>A MANE Select NP_005996.2:p.Gly786Ser
XM_017008586.1:c.2365G>A XP_016864075.1:p.Gly789Ser
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