Canonical Allele Identifier: CA356174330

Gene: WFS1

Linked Data

• ClinVar Variation Id: 2065723
• ClinVar RCV Id: RCV002958686
• dbSNP Id: rs1730865807
• gnomAD v3: 4-6300933-C-G
• gnomAD v4: 4-6300933-C-G
• MyVariant Identifiers: chr4:g.6302660C>G (hg19) ; chr4:g.6300933C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.6300933C>G , CM000666.2:g.6300933C>G	GRCh38
NC_000004.11:g.6302660C>G , CM000666.1:g.6302660C>G	GRCh37
NC_000004.10:g.6353561C>G	NCBI36
NG_011700.1:g.36084C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000682275.1:c.1174C>G	ENSP00000507852.1:p.Leu392Val
ENST00000683395.1:c.1115C>G
ENST00000684087.1:c.1138C>G	ENSP00000506978.1:p.Leu380Val
ENST00000506362.2:c.889C>G	ENSP00000424103.2:p.Leu297Val
ENST00000673642.1:c.797C>G	ENSP00000501242.1:p.Pro266Arg
ENST00000673991.1:c.1174C>G	ENSP00000501033.1:p.Leu392Val
ENST00000226760.5:c.1138C>G MANE Select	ENSP00000226760.1:p.Leu380Val
ENST00000503569.5:c.1138C>G	ENSP00000423337.1:p.Leu380Val
ENST00000507765.1:n.1323C>G
NM_001145853.1:c.1138C>G	NP_001139325.1:p.Leu380Val
NM_006005.3:c.1138C>G MANE Select	NP_005996.2:p.Leu380Val
XM_017008586.1:c.1147C>G	XP_016864075.1:p.Leu383Val