Canonical Allele Identifier: CA116903
Gene: WFS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 4526
ClinVar RCV Id: RCV000004784 RCV000020637 RCV000523215 RCV000599631 RCV001528145 RCV001544536
dbSNP Id: rs74315205
MyVariant Identifiers: chr4:g.6304112G>A (hg19) chr4:g.6302385G>A (hg38)
PubMed: PMID:16648378 PMID:17492394 PMID:18544103 PMID:20301750 PMID:21917145
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.6302385G>A , CM000666.2:g.6302385G>A GRCh38
NC_000004.11:g.6304112G>A , CM000666.1:g.6304112G>A GRCh37
NC_000004.10:g.6355013G>A NCBI36
NG_011700.1:g.37536G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000682275.1:c.2626G>A ENSP00000507852.1:p.Glu876Lys
ENST00000683395.1:c.2567G>A
ENST00000684087.1:c.2590G>A ENSP00000506978.1:p.Glu864Lys
ENST00000506362.2:c.2341G>A ENSP00000424103.2:p.Glu781Lys
ENST00000673991.1:c.2626G>A ENSP00000501033.1:p.Glu876Lys
ENST00000226760.5:c.2590G>A MANE Select ENSP00000226760.1:p.Glu864Lys
ENST00000503569.5:c.2590G>A ENSP00000423337.1:p.Glu864Lys
ENST00000507765.1:n.2775G>A
NM_001145853.1:c.2590G>A NP_001139325.1:p.Glu864Lys
NM_006005.3:c.2590G>A MANE Select NP_005996.2:p.Glu864Lys
XM_017008586.1:c.2599G>A XP_016864075.1:p.Glu867Lys
Search 100 bp 5'
Search 100 bp 3'