Canonical Allele Identifier: CA1058888830

Gene: WFS1

Linked Data

• dbSNP Id: rs1730463362
• gnomAD v3: 4-6291497-T-C
• gnomAD v4: 4-6291497-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.6291497T>C , CM000666.2:g.6291497T>C	GRCh38
NC_000004.11:g.6293224T>C , CM000666.1:g.6293224T>C	GRCh37
NC_000004.10:g.6344125T>C	NCBI36
NG_011700.1:g.26648T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000682275.1:c.631+130T>C	ENSP00000507852.1:n.631+130T>C
ENST00000683395.1:c.608+143T>C
ENST00000684087.1:c.631+130T>C	ENSP00000506978.1:n.631+130T>C
ENST00000684700.1:c.*56T>C	ENSP00000507806.1:n.*56T>C
ENST00000506362.2:c.382+130T>C	ENSP00000424103.2:n.382+130T>C
ENST00000673642.1:c.430+130T>C	ENSP00000501242.1:n.430+130T>C
ENST00000673991.1:c.631+130T>C	ENSP00000501033.1:n.631+130T>C
ENST00000226760.5:c.631+130T>C MANE Select	ENSP00000226760.1:n.631+130T>C
ENST00000503569.5:c.631+130T>C	ENSP00000423337.1:n.631+130T>C
ENST00000506362.1:c.228+130T>C
ENST00000507765.1:n.816+130T>C
NM_001145853.1:c.631+130T>C	NP_001139325.1:n.631+130T>C
NM_006005.3:c.631+130T>C MANE Select	NP_005996.2:n.631+130T>C
XM_017008586.1:c.640+130T>C	XP_016864075.1:n.640+130T>C