Canonical Allele Identifier: CA2839211

Gene: WFS1

Linked Data

• ClinVar Variation Id: 374398
• ClinVar RCV Id: RCV000414884 ; RCV000714795 ; RCV000765777 ; RCV001851006
• dbSNP Id: rs147157374
• ExAC: 4:6302601 G / A
• gnomAD v2: 4-6302601-G-A
• gnomAD v3: 4-6300874-G-A
• gnomAD v4: 4-6300874-G-A
• MyVariant Identifiers: chr4:g.6302601G>A (hg19) ; chr4:g.6300874G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.6300874G>A , CM000666.2:g.6300874G>A	GRCh38
NC_000004.11:g.6302601G>A , CM000666.1:g.6302601G>A	GRCh37
NC_000004.10:g.6353502G>A	NCBI36
NG_011700.1:g.36025G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682275.1:c.1115G>A	ENSP00000507852.1:p.Cys372Tyr
ENST00000683395.1:c.1056G>A
ENST00000684087.1:c.1079G>A	ENSP00000506978.1:p.Cys360Tyr
ENST00000506362.2:c.830G>A	ENSP00000424103.2:p.Cys277Tyr
ENST00000673642.1:c.738G>A	ENSP00000501242.1:p.Leu246=
ENST00000673991.1:c.1115G>A	ENSP00000501033.1:p.Cys372Tyr
ENST00000226760.5:c.1079G>A MANE Select	ENSP00000226760.1:p.Cys360Tyr
ENST00000503569.5:c.1079G>A	ENSP00000423337.1:p.Cys360Tyr
ENST00000506362.1:c.712G>A
ENST00000507765.1:n.1264G>A
NM_001145853.1:c.1079G>A	NP_001139325.1:p.Cys360Tyr
NM_006005.3:c.1079G>A MANE Select	NP_005996.2:p.Cys360Tyr
XM_017008586.1:c.1088G>A	XP_016864075.1:p.Cys363Tyr