Canonical Allele Identifier: CA356176108

Gene: WFS1

Linked Data

• ClinVar Variation Id: 1317420
• ClinVar RCV Id: RCV001767986
• dbSNP Id: rs1396020735
• gnomAD v4: 4-6301378-A-G
• MyVariant Identifiers: chr4:g.6303105A>G (hg19) ; chr4:g.6301378A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.6301378A>G , CM000666.2:g.6301378A>G	GRCh38
NC_000004.11:g.6303105A>G , CM000666.1:g.6303105A>G	GRCh37
NC_000004.10:g.6354006A>G	NCBI36
NG_011700.1:g.36529A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682275.1:c.1619A>G	ENSP00000507852.1:p.Tyr540Cys
ENST00000683395.1:c.1560A>G
ENST00000684087.1:c.1583A>G	ENSP00000506978.1:p.Tyr528Cys
ENST00000506362.2:c.1334A>G	ENSP00000424103.2:p.Tyr445Cys
ENST00000673642.1:c.1242A>G	ENSP00000501242.1:p.Leu414=
ENST00000673991.1:c.1619A>G	ENSP00000501033.1:p.Tyr540Cys
ENST00000226760.5:c.1583A>G MANE Select	ENSP00000226760.1:p.Tyr528Cys
ENST00000503569.5:c.1583A>G	ENSP00000423337.1:p.Tyr528Cys
ENST00000507765.1:n.1768A>G
NM_001145853.1:c.1583A>G	NP_001139325.1:p.Tyr528Cys
NM_006005.3:c.1583A>G MANE Select	NP_005996.2:p.Tyr528Cys
XM_017008586.1:c.1592A>G	XP_016864075.1:p.Tyr531Cys