Canonical Allele Identifier: CA2839773

Gene: WFS1

Linked Data

• ClinVar Variation Id: 287170
• ClinVar RCV Id: RCV000377710 ; RCV003147443
• dbSNP Id: rs748404777
• ExAC: 4:6304071 G / A
• gnomAD v2: 4-6304071-G-A
• gnomAD v3: 4-6302344-G-A
• gnomAD v4: 4-6302344-G-A
• MyVariant Identifiers: chr4:g.6304071G>A (hg19) ; chr4:g.6302344G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.6302344G>A , CM000666.2:g.6302344G>A	GRCh38
NC_000004.11:g.6304071G>A , CM000666.1:g.6304071G>A	GRCh37
NC_000004.10:g.6354972G>A	NCBI36
NG_011700.1:g.37495G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682275.1:c.2585G>A	ENSP00000507852.1:p.Cys862Tyr
ENST00000683395.1:c.2526G>A
ENST00000684087.1:c.2549G>A	ENSP00000506978.1:p.Cys850Tyr
ENST00000506362.2:c.2300G>A	ENSP00000424103.2:p.Cys767Tyr
ENST00000673991.1:c.2585G>A	ENSP00000501033.1:p.Cys862Tyr
ENST00000226760.5:c.2549G>A MANE Select	ENSP00000226760.1:p.Cys850Tyr
ENST00000503569.5:c.2549G>A	ENSP00000423337.1:p.Cys850Tyr
ENST00000507765.1:n.2734G>A
NM_001145853.1:c.2549G>A	NP_001139325.1:p.Cys850Tyr
NM_006005.3:c.2549G>A MANE Select	NP_005996.2:p.Cys850Tyr
XM_017008586.1:c.2558G>A	XP_016864075.1:p.Cys853Tyr