Canonical Allele Identifier: CA2839496

Gene: WFS1

Linked Data

• dbSNP Id: rs768878443
• ExAC: 4:6303318 T / G
• gnomAD v3: 4-6301591-T-G
• gnomAD v4: 4-6301591-T-G
• MyVariant Identifiers: chr4:g.6303318T>G (hg19) ; chr4:g.6301591T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.6301591T>G , CM000666.2:g.6301591T>G	GRCh38
NC_000004.11:g.6303318T>G , CM000666.1:g.6303318T>G	GRCh37
NC_000004.10:g.6354219T>G	NCBI36
NG_011700.1:g.36742T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000682275.1:c.1832T>G	ENSP00000507852.1:p.Val611Gly
ENST00000683395.1:c.1773T>G
ENST00000684087.1:c.1796T>G	ENSP00000506978.1:p.Val599Gly
ENST00000506362.2:c.1547T>G	ENSP00000424103.2:p.Val516Gly
ENST00000673642.1:c.1455T>G	ENSP00000501242.1:n.1455T>G
ENST00000673991.1:c.1832T>G	ENSP00000501033.1:p.Val611Gly
ENST00000226760.5:c.1796T>G MANE Select	ENSP00000226760.1:p.Val599Gly
ENST00000503569.5:c.1796T>G	ENSP00000423337.1:p.Val599Gly
ENST00000507765.1:n.1981T>G
NM_001145853.1:c.1796T>G	NP_001139325.1:p.Val599Gly
NM_006005.3:c.1796T>G MANE Select	NP_005996.2:p.Val599Gly
XM_017008586.1:c.1805T>G	XP_016864075.1:p.Val602Gly