Canonical Allele Identifier: CA282576

Gene: WFS1

Linked Data

• ClinVar Variation Id: 45439
• ClinVar RCV Id: RCV000038643 ; RCV000362526 ; RCV000307804 ; RCV000445534 ; RCV000755448 ; RCV002464003
• dbSNP Id: rs1805069
• ExAC: 4:6303248 G / A
• gnomAD v2: 4-6303248-G-A
• gnomAD v3: 4-6301521-G-A
• gnomAD v4: 4-6301521-G-A
• COSMIC: COSM3683297
• MyVariant Identifiers: chr4:g.6303248G>A (hg19) ; chr4:g.6301521G>A (hg38)
• PubMed: PMID:12565131

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.6301521G>A , CM000666.2:g.6301521G>A	GRCh38
NC_000004.11:g.6303248G>A , CM000666.1:g.6303248G>A	GRCh37
NC_000004.10:g.6354149G>A	NCBI36
NG_011700.1:g.36672G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682275.1:c.1762G>A	ENSP00000507852.1:p.Gly588Ser
ENST00000683395.1:c.1703G>A
ENST00000684087.1:c.1726G>A	ENSP00000506978.1:p.Gly576Ser
ENST00000506362.2:c.1477G>A	ENSP00000424103.2:p.Gly493Ser
ENST00000673642.1:c.1385G>A	ENSP00000501242.1:n.1385G>A
ENST00000673991.1:c.1762G>A	ENSP00000501033.1:p.Gly588Ser
ENST00000226760.5:c.1726G>A MANE Select	ENSP00000226760.1:p.Gly576Ser
ENST00000503569.5:c.1726G>A	ENSP00000423337.1:p.Gly576Ser
ENST00000507765.1:n.1911G>A
NM_001145853.1:c.1726G>A	NP_001139325.1:p.Gly576Ser
NM_006005.3:c.1726G>A MANE Select	NP_005996.2:p.Gly576Ser
XM_017008586.1:c.1735G>A	XP_016864075.1:p.Gly579Ser