Canonical Allele Identifier: CA2839367

Gene: WFS1

Linked Data

• ClinVar Variation Id: 1331576
• ClinVar RCV Id: RCV001806920 ; RCV002482335 ; RCV003247030
• dbSNP Id: rs767366742
• ExAC: 4:6303000 T / C
• gnomAD v2: 4-6303000-T-C
• gnomAD v3: 4-6301273-T-C
• gnomAD v4: 4-6301273-T-C
• MyVariant Identifiers: chr4:g.6303000T>C (hg19) ; chr4:g.6301273T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.6301273T>C , CM000666.2:g.6301273T>C	GRCh38
NC_000004.11:g.6303000T>C , CM000666.1:g.6303000T>C	GRCh37
NC_000004.10:g.6353901T>C	NCBI36
NG_011700.1:g.36424T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682275.1:c.1514T>C	ENSP00000507852.1:p.Val505Ala
ENST00000683395.1:c.1455T>C
ENST00000684087.1:c.1478T>C	ENSP00000506978.1:p.Val493Ala
ENST00000506362.2:c.1229T>C	ENSP00000424103.2:p.Val410Ala
ENST00000673642.1:c.1137T>C	ENSP00000501242.1:p.Cys379=
ENST00000673991.1:c.1514T>C	ENSP00000501033.1:p.Val505Ala
ENST00000226760.5:c.1478T>C MANE Select	ENSP00000226760.1:p.Val493Ala
ENST00000503569.5:c.1478T>C	ENSP00000423337.1:p.Val493Ala
ENST00000507765.1:n.1663T>C
NM_001145853.1:c.1478T>C	NP_001139325.1:p.Val493Ala
NM_006005.3:c.1478T>C MANE Select	NP_005996.2:p.Val493Ala
XM_017008586.1:c.1487T>C	XP_016864075.1:p.Val496Ala