Canonical Allele Identifier: CA2839384

Gene: WFS1

Linked Data

• ClinVar Variation Id: 2501448
• ClinVar RCV Id: RCV003227243 ; RCV003483914
• dbSNP Id: rs772993007
• ExAC: 4:6303030 T / G
• gnomAD v2: 4-6303030-T-G
• gnomAD v4: 4-6301303-T-G
• MyVariant Identifiers: chr4:g.6303030T>G (hg19) ; chr4:g.6301303T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.6301303T>G , CM000666.2:g.6301303T>G	GRCh38
NC_000004.11:g.6303030T>G , CM000666.1:g.6303030T>G	GRCh37
NC_000004.10:g.6353931T>G	NCBI36
NG_011700.1:g.36454T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682275.1:c.1544T>G	ENSP00000507852.1:p.Val515Gly
ENST00000683395.1:c.1485T>G
ENST00000684087.1:c.1508T>G	ENSP00000506978.1:p.Val503Gly
ENST00000506362.2:c.1259T>G	ENSP00000424103.2:p.Val420Gly
ENST00000673642.1:c.1167T>G	ENSP00000501242.1:p.Arg389=
ENST00000673991.1:c.1544T>G	ENSP00000501033.1:p.Val515Gly
ENST00000226760.5:c.1508T>G MANE Select	ENSP00000226760.1:p.Val503Gly
ENST00000503569.5:c.1508T>G	ENSP00000423337.1:p.Val503Gly
ENST00000507765.1:n.1693T>G
NM_001145853.1:c.1508T>G	NP_001139325.1:p.Val503Gly
NM_006005.3:c.1508T>G MANE Select	NP_005996.2:p.Val503Gly
XM_017008586.1:c.1517T>G	XP_016864075.1:p.Val506Gly