Canonical Allele Identifier: CA320427

Gene: WFS1

Linked Data

• ClinVar Variation Id: 215384
• ClinVar RCV Id: RCV000601338 ; RCV001857735 ; RCV002485310 ; RCV002515447
• dbSNP Id: rs200095753
• ExAC: 4:6302645 C / T
• gnomAD v2: 4-6302645-C-T
• gnomAD v3: 4-6300918-C-T
• gnomAD v4: 4-6300918-C-T
• MyVariant Identifiers: chr4:g.6302645C>T (hg19) ; chr4:g.6300918C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.6300918C>T , CM000666.2:g.6300918C>T	GRCh38
NC_000004.11:g.6302645C>T , CM000666.1:g.6302645C>T	GRCh37
NC_000004.10:g.6353546C>T	NCBI36
NG_011700.1:g.36069C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000682275.1:c.1159C>T	ENSP00000507852.1:p.Arg387Cys
ENST00000683395.1:c.1100C>T
ENST00000684087.1:c.1123C>T	ENSP00000506978.1:p.Arg375Cys
ENST00000506362.2:c.874C>T	ENSP00000424103.2:p.Arg292Cys
ENST00000673642.1:c.782C>T	ENSP00000501242.1:p.Pro261Leu
ENST00000673991.1:c.1159C>T	ENSP00000501033.1:p.Arg387Cys
ENST00000226760.5:c.1123C>T MANE Select	ENSP00000226760.1:p.Arg375Cys
ENST00000503569.5:c.1123C>T	ENSP00000423337.1:p.Arg375Cys
ENST00000507765.1:n.1308C>T
NM_001145853.1:c.1123C>T	NP_001139325.1:p.Arg375Cys
NM_006005.3:c.1123C>T MANE Select	NP_005996.2:p.Arg375Cys
XM_017008586.1:c.1132C>T	XP_016864075.1:p.Arg378Cys