Canonical Allele Identifier: CA507594
Gene: ISG15 HGNC NCBI

Linked Data

ClinVar Variation Id: 2085125
dbSNP Id: rs199853706
gnomAD v2: 1-949377-C-T
gnomAD v3: 1-1013997-C-T
gnomAD v4: 1-1013997-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.1013997C>T , CM000663.2:g.1013997C>T GRCh38
NC_000001.10:g.949377C>T , CM000663.1:g.949377C>T GRCh37
NC_000001.9:g.939240C>T NCBI36
NG_033033.1:g.5531C>T
NG_033033.2:g.17860C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000624697.4:c.-8C>T ENSP00000485643.1:n.-8C>T
ENST00000649529.1:c.17C>T MANE Select ENSP00000496832.1:p.Thr6Met
ENST00000379389.4:c.17C>T ENSP00000368699.4:p.Thr6Met
ENST00000624652.1:c.-8C>T ENSP00000485313.1:n.-8C>T
ENST00000624697.3:c.-8C>T ENSP00000485643.1:n.-8C>T
NM_005101.3:c.17C>T NP_005092.1:p.Thr6Met
NM_005101.4:c.17C>T MANE Select NP_005092.1:p.Thr6Met