Canonical Allele Identifier: CA356175084

Gene: WFS1

Linked Data

• ClinVar Variation Id: 505052
• ClinVar RCV Id: RCV000614284 ; RCV003126843
• dbSNP Id: rs1553878548
• gnomAD v4: 4-6301263-A-G
• MyVariant Identifiers: chr4:g.6302990A>G (hg19) ; chr4:g.6301263A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.6301263A>G , CM000666.2:g.6301263A>G	GRCh38
NC_000004.11:g.6302990A>G , CM000666.1:g.6302990A>G	GRCh37
NC_000004.10:g.6353891A>G	NCBI36
NG_011700.1:g.36414A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682275.1:c.1504A>G	ENSP00000507852.1:p.Thr502Ala
ENST00000683395.1:c.1445A>G
ENST00000684087.1:c.1468A>G	ENSP00000506978.1:p.Thr490Ala
ENST00000506362.2:c.1219A>G	ENSP00000424103.2:p.Thr407Ala
ENST00000673642.1:c.1127A>G	ENSP00000501242.1:p.His376Arg
ENST00000673991.1:c.1504A>G	ENSP00000501033.1:p.Thr502Ala
ENST00000226760.5:c.1468A>G MANE Select	ENSP00000226760.1:p.Thr490Ala
ENST00000503569.5:c.1468A>G	ENSP00000423337.1:p.Thr490Ala
ENST00000507765.1:n.1653A>G
NM_001145853.1:c.1468A>G	NP_001139325.1:p.Thr490Ala
NM_006005.3:c.1468A>G MANE Select	NP_005996.2:p.Thr490Ala
XM_017008586.1:c.1477A>G	XP_016864075.1:p.Thr493Ala