Canonical Allele Identifier: CA16725097
Gene: ISG15 HGNC NCBI

Linked Data

ClinVar Variation Id: 661610
ClinVar RCV Id: RCV000819065
dbSNP Id: rs950572063
gnomAD v2: 1-949392-C-T
gnomAD v3: 1-1014012-C-T
gnomAD v4: 1-1014012-C-T
MyVariant Identifiers: chr1:g.949392C>T (hg19) chr1:g.949392_949393delinsTG (hg19) chr1:g.1014012C>T (hg38) chr1:g.1014012_1014013delinsTG (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.1014012C>T , CM000663.2:g.1014012C>T GRCh38
NC_000001.10:g.949392C>T , CM000663.1:g.949392C>T GRCh37
NC_000001.9:g.939255C>T NCBI36
NG_033033.1:g.5546C>T
NG_033033.2:g.17875C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000624697.4:c.8C>T ENSP00000485643.1:p.Ala3Val
ENST00000649529.1:c.32C>T MANE Select ENSP00000496832.1:p.Ala11Val
ENST00000379389.4:c.32C>T ENSP00000368699.4:p.Ala11Val
ENST00000624652.1:c.8C>T ENSP00000485313.1:p.Ala3Val
ENST00000624697.3:c.8C>T ENSP00000485643.1:p.Ala3Val
NM_005101.3:c.32C>T NP_005092.1:p.Ala11Val
NM_005101.4:c.32C>T MANE Select NP_005092.1:p.Ala11Val
Search 100 bp 5'
Search 100 bp 3'