Canonical Allele Identifier: CA1058893388

Gene: WFS1

Linked Data

• dbSNP Id: rs1731021319
• gnomAD v3: 4-6303046-A-C
• gnomAD v4: 4-6303046-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.6303046A>C , CM000666.2:g.6303046A>C	GRCh38
NC_000004.11:g.6304773A>C , CM000666.1:g.6304773A>C	GRCh37
NC_000004.10:g.6355674A>C	NCBI36
NG_011700.1:g.38197A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682275.1:c.*578A>C	ENSP00000507852.1:n.*578A>C
ENST00000683395.1:c.3228A>C
ENST00000684087.1:c.*578A>C	ENSP00000506978.1:n.*578A>C
ENST00000673991.1:c.*578A>C	ENSP00000501033.1:n.*578A>C
ENST00000226760.5:c.*578A>C MANE Select	ENSP00000226760.1:n.*578A>C
ENST00000507765.1:n.3436A>C
NM_001145853.1:c.*578A>C	NP_001139325.1:n.*578A>C
NM_006005.3:c.*578A>C MANE Select	NP_005996.2:n.*578A>C
XM_017008586.1:c.*578A>C	XP_016864075.1:n.*578A>C
XR_001741566.2:n.1899T>G