Canonical Allele Identifier: CA356171939

Gene: WFS1

Linked Data

• MyVariant Identifiers: chr4:g.6292977C>G (hg19) ; chr4:g.6291250C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.6291250C>G , CM000666.2:g.6291250C>G	GRCh38
NC_000004.11:g.6292977C>G , CM000666.1:g.6292977C>G	GRCh37
NC_000004.10:g.6343878C>G	NCBI36
NG_011700.1:g.26401C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682275.1:c.514C>G	ENSP00000507852.1:p.Leu172Val
ENST00000683395.1:c.504C>G
ENST00000684087.1:c.514C>G	ENSP00000506978.1:p.Leu172Val
ENST00000684700.1:c.514C>G	ENSP00000507806.1:p.Leu172Val
ENST00000506362.2:c.265C>G	ENSP00000424103.2:p.Leu89Val
ENST00000673642.1:c.313C>G	ENSP00000501242.1:p.Leu105Val
ENST00000673991.1:c.514C>G	ENSP00000501033.1:p.Leu172Val
ENST00000674051.1:c.388C>G	ENSP00000501083.1:p.Leu130Val
ENST00000226760.5:c.514C>G MANE Select	ENSP00000226760.1:p.Leu172Val
ENST00000503569.5:c.514C>G	ENSP00000423337.1:p.Leu172Val
ENST00000506362.1:c.111C>G
ENST00000507765.1:n.699C>G
NM_001145853.1:c.514C>G	NP_001139325.1:p.Leu172Val
NM_006005.3:c.514C>G MANE Select	NP_005996.2:p.Leu172Val
XM_017008586.1:c.523C>G	XP_016864075.1:p.Leu175Val