Canonical Allele Identifier: CA2838946

Gene: WFS1

Linked Data

• dbSNP Id: rs778592672
• ExAC: 4:6293058 G / C
• gnomAD v2: 4-6293058-G-C
• gnomAD v4: 4-6291331-G-C
• MyVariant Identifiers: chr4:g.6293058G>C (hg19) ; chr4:g.6291331G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.6291331G>C , CM000666.2:g.6291331G>C	GRCh38
NC_000004.11:g.6293058G>C , CM000666.1:g.6293058G>C	GRCh37
NC_000004.10:g.6343959G>C	NCBI36
NG_011700.1:g.26482G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682275.1:c.595G>C	ENSP00000507852.1:p.Glu199Gln
ENST00000683395.1:c.585G>C
ENST00000684087.1:c.595G>C	ENSP00000506978.1:p.Glu199Gln
ENST00000684700.1:c.595G>C	ENSP00000507806.1:p.Glu199Gln
ENST00000506362.2:c.346G>C	ENSP00000424103.2:p.Glu116Gln
ENST00000673642.1:c.394G>C	ENSP00000501242.1:p.Glu132Gln
ENST00000673991.1:c.595G>C	ENSP00000501033.1:p.Glu199Gln
ENST00000226760.5:c.595G>C MANE Select	ENSP00000226760.1:p.Glu199Gln
ENST00000503569.5:c.595G>C	ENSP00000423337.1:p.Glu199Gln
ENST00000506362.1:c.192G>C
ENST00000507765.1:n.780G>C
NM_001145853.1:c.595G>C	NP_001139325.1:p.Glu199Gln
NM_006005.3:c.595G>C MANE Select	NP_005996.2:p.Glu199Gln
XM_017008586.1:c.604G>C	XP_016864075.1:p.Glu202Gln