Canonical Allele Identifier: CA10619015
Gene: WFS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 349326
ClinVar RCV Id: RCV000272522 RCV000380880 RCV003148733 RCV001861236 RCV002502347
dbSNP Id: rs775659531
gnomAD v2: 4-6303894-G-A
gnomAD v4: 4-6302167-G-A
MyVariant Identifiers: chr4:g.6303894G>A (hg19) chr4:g.6302167G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.6302167G>A , CM000666.2:g.6302167G>A GRCh38
NC_000004.11:g.6303894G>A , CM000666.1:g.6303894G>A GRCh37
NC_000004.10:g.6354795G>A NCBI36
NG_011700.1:g.37318G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000682275.1:c.2408G>A ENSP00000507852.1:p.Arg803His
ENST00000683395.1:c.2349G>A
ENST00000684087.1:c.2372G>A ENSP00000506978.1:p.Arg791His
ENST00000506362.2:c.2123G>A ENSP00000424103.2:p.Arg708His
ENST00000673991.1:c.2408G>A ENSP00000501033.1:p.Arg803His
ENST00000226760.5:c.2372G>A MANE Select ENSP00000226760.1:p.Arg791His
ENST00000503569.5:c.2372G>A ENSP00000423337.1:p.Arg791His
ENST00000507765.1:n.2557G>A
NM_001145853.1:c.2372G>A NP_001139325.1:p.Arg791His
NM_006005.3:c.2372G>A MANE Select NP_005996.2:p.Arg791His
XM_017008586.1:c.2381G>A XP_016864075.1:p.Arg794His
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