Canonical Allele Identifier: CA356171832

Gene: WFS1

Linked Data

• ClinVar Variation Id: 1315879
• ClinVar RCV Id: RCV001757326
• dbSNP Id: rs2109116520
• gnomAD v4: 4-6291199-A-G
• MyVariant Identifiers: chr4:g.6292926A>G (hg19) ; chr4:g.6291199A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.6291199A>G , CM000666.2:g.6291199A>G	GRCh38
NC_000004.11:g.6292926A>G , CM000666.1:g.6292926A>G	GRCh37
NC_000004.10:g.6343827A>G	NCBI36
NG_011700.1:g.26350A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000682275.1:c.463A>G	ENSP00000507852.1:p.Ile155Val
ENST00000683395.1:c.453A>G
ENST00000684087.1:c.463A>G	ENSP00000506978.1:p.Ile155Val
ENST00000684700.1:c.463A>G	ENSP00000507806.1:p.Ile155Val
ENST00000506362.2:c.214A>G	ENSP00000424103.2:p.Ile72Val
ENST00000673642.1:c.262A>G	ENSP00000501242.1:p.Ile88Val
ENST00000673991.1:c.463A>G	ENSP00000501033.1:p.Ile155Val
ENST00000674051.1:c.337A>G	ENSP00000501083.1:p.Ile113Val
ENST00000226760.5:c.463A>G MANE Select	ENSP00000226760.1:p.Ile155Val
ENST00000503569.5:c.463A>G	ENSP00000423337.1:p.Ile155Val
ENST00000506362.1:c.60A>G
ENST00000507765.1:n.648A>G
NM_001145853.1:c.463A>G	NP_001139325.1:p.Ile155Val
NM_006005.3:c.463A>G MANE Select	NP_005996.2:p.Ile155Val
XM_017008586.1:c.472A>G	XP_016864075.1:p.Ile158Val