Canonical Allele Identifier: CA356178415

Gene: WFS1

Linked Data

• ClinVar Variation Id: 2125078
• ClinVar RCV Id: RCV003057479
• gnomAD v4: 4-6302144-C-A
• MyVariant Identifiers: chr4:g.6303871C>A (hg19) ; chr4:g.6302144C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.6302144C>A , CM000666.2:g.6302144C>A	GRCh38
NC_000004.11:g.6303871C>A , CM000666.1:g.6303871C>A	GRCh37
NC_000004.10:g.6354772C>A	NCBI36
NG_011700.1:g.37295C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682275.1:c.2385C>A	ENSP00000507852.1:p.Phe795Leu
ENST00000683395.1:c.2326C>A
ENST00000684087.1:c.2349C>A	ENSP00000506978.1:p.Phe783Leu
ENST00000506362.2:c.2100C>A	ENSP00000424103.2:p.Phe700Leu
ENST00000673642.1:c.2008C>A	ENSP00000501242.1:n.2008C>A
ENST00000673991.1:c.2385C>A	ENSP00000501033.1:p.Phe795Leu
ENST00000226760.5:c.2349C>A MANE Select	ENSP00000226760.1:p.Phe783Leu
ENST00000503569.5:c.2349C>A	ENSP00000423337.1:p.Phe783Leu
ENST00000507765.1:n.2534C>A
NM_001145853.1:c.2349C>A	NP_001139325.1:p.Phe783Leu
NM_006005.3:c.2349C>A MANE Select	NP_005996.2:p.Phe783Leu
XM_017008586.1:c.2358C>A	XP_016864075.1:p.Phe786Leu