Canonical Allele Identifier: CA356178838

Gene: WFS1

Linked Data

• dbSNP Id: rs71530915
• gnomAD v3: 4-6302319-C-G
• gnomAD v4: 4-6302319-C-G
• MyVariant Identifiers: chr4:g.6304046C>G (hg19) ; chr4:g.6302319C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.6302319C>G , CM000666.2:g.6302319C>G	GRCh38
NC_000004.11:g.6304046C>G , CM000666.1:g.6304046C>G	GRCh37
NC_000004.10:g.6354947C>G	NCBI36
NG_011700.1:g.37470C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682275.1:c.2560C>G	ENSP00000507852.1:p.Leu854Val
ENST00000683395.1:c.2501C>G
ENST00000684087.1:c.2524C>G	ENSP00000506978.1:p.Leu842Val
ENST00000506362.2:c.2275C>G	ENSP00000424103.2:p.Leu759Val
ENST00000673991.1:c.2560C>G	ENSP00000501033.1:p.Leu854Val
ENST00000226760.5:c.2524C>G MANE Select	ENSP00000226760.1:p.Leu842Val
ENST00000503569.5:c.2524C>G	ENSP00000423337.1:p.Leu842Val
ENST00000507765.1:n.2709C>G
NM_001145853.1:c.2524C>G	NP_001139325.1:p.Leu842Val
NM_006005.3:c.2524C>G MANE Select	NP_005996.2:p.Leu842Val
XM_017008586.1:c.2533C>G	XP_016864075.1:p.Leu845Val