Canonical Allele Identifier: CA2839710
Gene: WFS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2185323
ClinVar RCV Id: RCV002603757
dbSNP Id: rs763340690
ExAC: 4:6303900 G / A
gnomAD v2: 4-6303900-G-A
gnomAD v3: 4-6302173-G-A
gnomAD v4: 4-6302173-G-A
COSMIC: COSM5734006
MyVariant Identifiers: chr4:g.6303900G>A (hg19) chr4:g.6302173G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.6302173G>A , CM000666.2:g.6302173G>A GRCh38
NC_000004.11:g.6303900G>A , CM000666.1:g.6303900G>A GRCh37
NC_000004.10:g.6354801G>A NCBI36
NG_011700.1:g.37324G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000682275.1:c.2414G>A ENSP00000507852.1:p.Arg805His
ENST00000683395.1:c.2355G>A
ENST00000684087.1:c.2378G>A ENSP00000506978.1:p.Arg793His
ENST00000506362.2:c.2129G>A ENSP00000424103.2:p.Arg710His
ENST00000673991.1:c.2414G>A ENSP00000501033.1:p.Arg805His
ENST00000226760.5:c.2378G>A MANE Select ENSP00000226760.1:p.Arg793His
ENST00000503569.5:c.2378G>A ENSP00000423337.1:p.Arg793His
ENST00000507765.1:n.2563G>A
NM_001145853.1:c.2378G>A NP_001139325.1:p.Arg793His
NM_006005.3:c.2378G>A MANE Select NP_005996.2:p.Arg793His
XM_017008586.1:c.2387G>A XP_016864075.1:p.Arg796His
Search 100 bp 5'
Search 100 bp 3'