Canonical Allele Identifier: CA356177123

Gene: WFS1

Linked Data

• gnomAD v4: 4-6301728-C-A
• COSMIC: COSM1430503
• MyVariant Identifiers: chr4:g.6303455C>A (hg19) ; chr4:g.6301728C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.6301728C>A , CM000666.2:g.6301728C>A	GRCh38
NC_000004.11:g.6303455C>A , CM000666.1:g.6303455C>A	GRCh37
NC_000004.10:g.6354356C>A	NCBI36
NG_011700.1:g.36879C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682275.1:c.1969C>A	ENSP00000507852.1:p.Leu657Met
ENST00000683395.1:c.1910C>A
ENST00000684087.1:c.1933C>A	ENSP00000506978.1:p.Leu645Met
ENST00000506362.2:c.1684C>A	ENSP00000424103.2:p.Leu562Met
ENST00000673642.1:c.1592C>A	ENSP00000501242.1:n.1592C>A
ENST00000673991.1:c.1969C>A	ENSP00000501033.1:p.Leu657Met
ENST00000226760.5:c.1933C>A MANE Select	ENSP00000226760.1:p.Leu645Met
ENST00000503569.5:c.1933C>A	ENSP00000423337.1:p.Leu645Met
ENST00000507765.1:n.2118C>A
NM_001145853.1:c.1933C>A	NP_001139325.1:p.Leu645Met
NM_006005.3:c.1933C>A MANE Select	NP_005996.2:p.Leu645Met
XM_017008586.1:c.1942C>A	XP_016864075.1:p.Leu648Met