Canonical Allele Identifier: CA2839295

Gene: WFS1

Linked Data

• dbSNP Id: rs763561068
• ExAC: 4:6302805 C / T
• gnomAD v2: 4-6302805-C-T
• gnomAD v3: 4-6301078-C-T
• gnomAD v4: 4-6301078-C-T
• COSMIC: COSM3604872
• MyVariant Identifiers: chr4:g.6302805C>T (hg19) ; chr4:g.6301078C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.6301078C>T , CM000666.2:g.6301078C>T	GRCh38
NC_000004.11:g.6302805C>T , CM000666.1:g.6302805C>T	GRCh37
NC_000004.10:g.6353706C>T	NCBI36
NG_011700.1:g.36229C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000682275.1:c.1319C>T	ENSP00000507852.1:p.Pro440Leu
ENST00000683395.1:c.1260C>T
ENST00000684087.1:c.1283C>T	ENSP00000506978.1:p.Pro428Leu
ENST00000506362.2:c.1034C>T	ENSP00000424103.2:p.Pro345Leu
ENST00000673642.1:c.942C>T	ENSP00000501242.1:p.Pro314=
ENST00000673991.1:c.1319C>T	ENSP00000501033.1:p.Pro440Leu
ENST00000226760.5:c.1283C>T MANE Select	ENSP00000226760.1:p.Pro428Leu
ENST00000503569.5:c.1283C>T	ENSP00000423337.1:p.Pro428Leu
ENST00000507765.1:n.1468C>T
NM_001145853.1:c.1283C>T	NP_001139325.1:p.Pro428Leu
NM_006005.3:c.1283C>T MANE Select	NP_005996.2:p.Pro428Leu
XM_017008586.1:c.1292C>T	XP_016864075.1:p.Pro431Leu