Canonical Allele Identifier: CA10576638

Gene: WFS1

Linked Data

• ClinVar Variation Id: 229636
• ClinVar RCV Id: RCV000217826 ; RCV003126610
• dbSNP Id: rs71530925
• gnomAD v4: 4-6301177-C-T
• MyVariant Identifiers: chr4:g.6302904C>T (hg19) ; chr4:g.6301177C>T (hg38)
• PubMed: PMID:18806274 ; PMID:22238590

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.6301177C>T , CM000666.2:g.6301177C>T	GRCh38
NC_000004.11:g.6302904C>T , CM000666.1:g.6302904C>T	GRCh37
NC_000004.10:g.6353805C>T	NCBI36
NG_011700.1:g.36328C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682275.1:c.1418C>T	ENSP00000507852.1:p.Thr473Ile
ENST00000683395.1:c.1359C>T
ENST00000684087.1:c.1382C>T	ENSP00000506978.1:p.Thr461Ile
ENST00000506362.2:c.1133C>T	ENSP00000424103.2:p.Thr378Ile
ENST00000673642.1:c.1041C>T	ENSP00000501242.1:p.His347=
ENST00000673991.1:c.1418C>T	ENSP00000501033.1:p.Thr473Ile
ENST00000226760.5:c.1382C>T MANE Select	ENSP00000226760.1:p.Thr461Ile
ENST00000503569.5:c.1382C>T	ENSP00000423337.1:p.Thr461Ile
ENST00000507765.1:n.1567C>T
NM_001145853.1:c.1382C>T	NP_001139325.1:p.Thr461Ile
NM_006005.3:c.1382C>T MANE Select	NP_005996.2:p.Thr461Ile
XM_017008586.1:c.1391C>T	XP_016864075.1:p.Thr464Ile