Canonical Allele Identifier: CA91798162

Gene: WFS1

Linked Data

• dbSNP Id: rs967717862
• gnomAD v4: 4-6302628-C-T
• MyVariant Identifiers: chr4:g.6304355C>T (hg19) ; chr4:g.6302628C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.6302628C>T , CM000666.2:g.6302628C>T	GRCh38
NC_000004.11:g.6304355C>T , CM000666.1:g.6304355C>T	GRCh37
NC_000004.10:g.6355256C>T	NCBI36
NG_011700.1:g.37779C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000682275.1:c.*160C>T	ENSP00000507852.1:n.*160C>T
ENST00000683395.1:c.2810C>T
ENST00000684087.1:c.*160C>T	ENSP00000506978.1:n.*160C>T
ENST00000506362.2:c.*160C>T	ENSP00000424103.2:n.*160C>T
ENST00000673991.1:c.*160C>T	ENSP00000501033.1:n.*160C>T
ENST00000226760.5:c.*160C>T MANE Select	ENSP00000226760.1:n.*160C>T
ENST00000503569.5:c.*160C>T	ENSP00000423337.1:n.*160C>T
ENST00000507765.1:n.3018C>T
NM_001145853.1:c.*160C>T	NP_001139325.1:n.*160C>T
NM_006005.3:c.*160C>T MANE Select	NP_005996.2:n.*160C>T
XM_017008586.1:c.*160C>T	XP_016864075.1:n.*160C>T