Canonical Allele Identifier: CA323280

Gene: WFS1

Linked Data

• ClinVar Variation Id: 215363
• ClinVar RCV Id: RCV000198752 ; RCV000728671 ; RCV003126583
• dbSNP Id: rs147838635
• ExAC: 4:6303323 G / A
• gnomAD v2: 4-6303323-G-A
• gnomAD v3: 4-6301596-G-A
• gnomAD v4: 4-6301596-G-A
• MyVariant Identifiers: chr4:g.6303323G>A (hg19) ; chr4:g.6301596G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.6301596G>A , CM000666.2:g.6301596G>A	GRCh38
NC_000004.11:g.6303323G>A , CM000666.1:g.6303323G>A	GRCh37
NC_000004.10:g.6354224G>A	NCBI36
NG_011700.1:g.36747G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682275.1:c.1837G>A	ENSP00000507852.1:p.Val613Met
ENST00000683395.1:c.1778G>A
ENST00000684087.1:c.1801G>A	ENSP00000506978.1:p.Val601Met
ENST00000506362.2:c.1552G>A	ENSP00000424103.2:p.Val518Met
ENST00000673642.1:c.1460G>A	ENSP00000501242.1:n.1460G>A
ENST00000673991.1:c.1837G>A	ENSP00000501033.1:p.Val613Met
ENST00000226760.5:c.1801G>A MANE Select	ENSP00000226760.1:p.Val601Met
ENST00000503569.5:c.1801G>A	ENSP00000423337.1:p.Val601Met
ENST00000507765.1:n.1986G>A
NM_001145853.1:c.1801G>A	NP_001139325.1:p.Val601Met
NM_006005.3:c.1801G>A MANE Select	NP_005996.2:p.Val601Met
XM_017008586.1:c.1810G>A	XP_016864075.1:p.Val604Met