Canonical Allele Identifier: CA507666
Gene: ISG15 HGNC NCBI

Linked Data

ClinVar Variation Id: 1166514
ClinVar RCV Id: RCV001514848 RCV003389256 RCV001732198
dbSNP Id: rs8997
ExAC: 1:949654 A / G
gnomAD v2: 1-949654-A-G
gnomAD v3: 1-1014274-A-G
gnomAD v4: 1-1014274-A-G
MyVariant Identifiers: chr1:g.949654A>G (hg19) chr1:g.1014274A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.1014274A>G , CM000663.2:g.1014274A>G GRCh38
NC_000001.10:g.949654A>G , CM000663.1:g.949654A>G GRCh37
NC_000001.9:g.939517A>G NCBI36
NG_033033.1:g.5808A>G
NG_033033.2:g.18137A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000624697.4:c.270A>G ENSP00000485643.1:p.Val90=
ENST00000649529.1:c.294A>G MANE Select ENSP00000496832.1:p.Val98=
ENST00000379389.4:c.294A>G ENSP00000368699.4:p.Val98=
ENST00000624652.1:c.270A>G ENSP00000485313.1:p.Val90=
ENST00000624697.3:c.270A>G ENSP00000485643.1:p.Val90=
NM_005101.3:c.294A>G NP_005092.1:p.Val98=
NM_005101.4:c.294A>G MANE Select NP_005092.1:p.Val98=
Search 100 bp 5'
Search 100 bp 3'