Canonical Allele Identifier: CA356176365

Gene: WFS1

Linked Data

• ClinVar Variation Id: 1803202
• ClinVar RCV Id: RCV002466872
• MyVariant Identifiers: chr4:g.6303158G>A (hg19) ; chr4:g.6301431G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.6301431G>A , CM000666.2:g.6301431G>A	GRCh38
NC_000004.11:g.6303158G>A , CM000666.1:g.6303158G>A	GRCh37
NC_000004.10:g.6354059G>A	NCBI36
NG_011700.1:g.36582G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682275.1:c.1672G>A	ENSP00000507852.1:p.Val558Ile
ENST00000683395.1:c.1613G>A
ENST00000684087.1:c.1636G>A	ENSP00000506978.1:p.Val546Ile
ENST00000506362.2:c.1387G>A	ENSP00000424103.2:p.Val463Ile
ENST00000673642.1:c.1295G>A	ENSP00000501242.1:n.1295G>A
ENST00000673991.1:c.1672G>A	ENSP00000501033.1:p.Val558Ile
ENST00000226760.5:c.1636G>A MANE Select	ENSP00000226760.1:p.Val546Ile
ENST00000503569.5:c.1636G>A	ENSP00000423337.1:p.Val546Ile
ENST00000507765.1:n.1821G>A
NM_001145853.1:c.1636G>A	NP_001139325.1:p.Val546Ile
NM_006005.3:c.1636G>A MANE Select	NP_005996.2:p.Val546Ile
XM_017008586.1:c.1645G>A	XP_016864075.1:p.Val549Ile