Canonical Allele Identifier: CA91794568

Gene: WFS1

Linked Data

• dbSNP Id: rs911076383
• gnomAD v4: 4-6291132-G-C
• MyVariant Identifiers: chr4:g.6292859G>C (hg19) ; chr4:g.6291132G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.6291132G>C , CM000666.2:g.6291132G>C	GRCh38
NC_000004.11:g.6292859G>C , CM000666.1:g.6292859G>C	GRCh37
NC_000004.10:g.6343760G>C	NCBI36
NG_011700.1:g.26283G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000682275.1:c.461-65G>C	ENSP00000507852.1:n.461-65G>C
ENST00000683395.1:c.451-65G>C
ENST00000684087.1:c.461-65G>C	ENSP00000506978.1:n.461-65G>C
ENST00000684700.1:c.461-65G>C	ENSP00000507806.1:n.461-65G>C
ENST00000506362.2:c.212-65G>C	ENSP00000424103.2:n.212-65G>C
ENST00000673642.1:c.260-65G>C	ENSP00000501242.1:n.260-65G>C
ENST00000673991.1:c.461-65G>C	ENSP00000501033.1:n.461-65G>C
ENST00000674051.1:c.335-65G>C	ENSP00000501083.1:n.335-65G>C
ENST00000226760.5:c.461-65G>C MANE Select	ENSP00000226760.1:n.461-65G>C
ENST00000503569.5:c.461-65G>C	ENSP00000423337.1:n.461-65G>C
ENST00000506362.1:c.58-65G>C
ENST00000507765.1:n.646-65G>C
NM_001145853.1:c.461-65G>C	NP_001139325.1:n.461-65G>C
NM_006005.3:c.461-65G>C MANE Select	NP_005996.2:n.461-65G>C
XM_017008586.1:c.470-65G>C	XP_016864075.1:n.470-65G>C