Canonical Allele Identifier: CA507637
Gene: ISG15 HGNC NCBI

Linked Data

ClinVar Variation Id: 652606
ClinVar RCV Id: RCV000808191
dbSNP Id: rs146063673
ExAC: 1:949518 C / T
gnomAD v2: 1-949518-C-T
gnomAD v3: 1-1014138-C-T
gnomAD v4: 1-1014138-C-T
MyVariant Identifiers: chr1:g.949518C>T (hg19) chr1:g.1014138C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.1014138C>T , CM000663.2:g.1014138C>T GRCh38
NC_000001.10:g.949518C>T , CM000663.1:g.949518C>T GRCh37
NC_000001.9:g.939381C>T NCBI36
NG_033033.1:g.5672C>T
NG_033033.2:g.18001C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000624697.4:c.134C>T ENSP00000485643.1:p.Ala45Val
ENST00000649529.1:c.158C>T MANE Select ENSP00000496832.1:p.Ala53Val
ENST00000379389.4:c.158C>T ENSP00000368699.4:p.Ala53Val
ENST00000624652.1:c.134C>T ENSP00000485313.1:p.Ala45Val
ENST00000624697.3:c.134C>T ENSP00000485643.1:p.Ala45Val
NM_005101.3:c.158C>T NP_005092.1:p.Ala53Val
NM_005101.4:c.158C>T MANE Select NP_005092.1:p.Ala53Val
Search 100 bp 5'
Search 100 bp 3'