Canonical Allele Identifier: CA337803458
Gene: ISG15 HGNC NCBI

Linked Data

ClinVar Variation Id: 942967
ClinVar RCV Id: RCV001213058
dbSNP Id: rs1241025790
gnomAD v2: 1-949391-G-A
gnomAD v4: 1-1014011-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.1014011G>A , CM000663.2:g.1014011G>A GRCh38
NC_000001.10:g.949391G>A , CM000663.1:g.949391G>A GRCh37
NC_000001.9:g.939254G>A NCBI36
NG_033033.1:g.5545G>A
NG_033033.2:g.17874G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000624697.4:c.7G>A ENSP00000485643.1:p.Ala3Thr
ENST00000649529.1:c.31G>A MANE Select ENSP00000496832.1:p.Ala11Thr
ENST00000379389.4:c.31G>A ENSP00000368699.4:p.Ala11Thr
ENST00000624652.1:c.7G>A ENSP00000485313.1:p.Ala3Thr
ENST00000624697.3:c.7G>A ENSP00000485643.1:p.Ala3Thr
NM_005101.3:c.31G>A NP_005092.1:p.Ala11Thr
NM_005101.4:c.31G>A MANE Select NP_005092.1:p.Ala11Thr