Canonical Allele Identifier: CA356176953

Gene: WFS1

Linked Data

• dbSNP Id: rs1730924752
• COSMIC: COSM3303295
• MyVariant Identifiers: chr4:g.6303369C>T (hg19) ; chr4:g.6301642C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.6301642C>T , CM000666.2:g.6301642C>T	GRCh38
NC_000004.11:g.6303369C>T , CM000666.1:g.6303369C>T	GRCh37
NC_000004.10:g.6354270C>T	NCBI36
NG_011700.1:g.36793C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000682275.1:c.1883C>T	ENSP00000507852.1:p.Ala628Val
ENST00000683395.1:c.1824C>T
ENST00000684087.1:c.1847C>T	ENSP00000506978.1:p.Ala616Val
ENST00000506362.2:c.1598C>T	ENSP00000424103.2:p.Ala533Val
ENST00000673642.1:c.1506C>T	ENSP00000501242.1:n.1506C>T
ENST00000673991.1:c.1883C>T	ENSP00000501033.1:p.Ala628Val
ENST00000226760.5:c.1847C>T MANE Select	ENSP00000226760.1:p.Ala616Val
ENST00000503569.5:c.1847C>T	ENSP00000423337.1:p.Ala616Val
ENST00000507765.1:n.2032C>T
NM_001145853.1:c.1847C>T	NP_001139325.1:p.Ala616Val
NM_006005.3:c.1847C>T MANE Select	NP_005996.2:p.Ala616Val
XM_017008586.1:c.1856C>T	XP_016864075.1:p.Ala619Val