Canonical Allele Identifier: CA2839133

Gene: WFS1

Linked Data

• ClinVar Variation Id: 1810360
• ClinVar RCV Id: RCV002509847 ; RCV002574722
• dbSNP Id: rs777580652
• ExAC: 4:6302395 C / T
• gnomAD v2: 4-6302395-C-T
• gnomAD v4: 4-6300668-C-T
• MyVariant Identifiers: chr4:g.6302395C>T (hg19) ; chr4:g.6300668C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.6300668C>T , CM000666.2:g.6300668C>T	GRCh38
NC_000004.11:g.6302395C>T , CM000666.1:g.6302395C>T	GRCh37
NC_000004.10:g.6353296C>T	NCBI36
NG_011700.1:g.35819C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682275.1:c.909C>T	ENSP00000507852.1:p.Tyr303=
ENST00000683395.1:c.850C>T
ENST00000684087.1:c.873C>T	ENSP00000506978.1:p.Tyr291=
ENST00000506362.2:c.624C>T	ENSP00000424103.2:p.Tyr208=
ENST00000673642.1:c.661-129C>T	ENSP00000501242.1:n.661-129C>T
ENST00000673991.1:c.909C>T	ENSP00000501033.1:p.Tyr303=
ENST00000226760.5:c.873C>T MANE Select	ENSP00000226760.1:p.Tyr291=
ENST00000503569.5:c.873C>T	ENSP00000423337.1:p.Tyr291=
ENST00000506362.1:c.506C>T
ENST00000507765.1:n.1058C>T
ENST00000513395.1:n.431C>T
NM_001145853.1:c.873C>T	NP_001139325.1:p.Tyr291=
NM_006005.3:c.873C>T MANE Select	NP_005996.2:p.Tyr291=
XM_017008586.1:c.882C>T	XP_016864075.1:p.Tyr294=