Canonical Allele Identifier: CA337803654
Gene: ISG15 HGNC NCBI

Linked Data

ClinVar Variation Id: 1354468
ClinVar RCV Id: RCV001866440
dbSNP Id: rs1245686232
gnomAD v3: 1-1014063-T-A
gnomAD v4: 1-1014063-T-A
MyVariant Identifiers: chr1:g.949443T>A (hg19) chr1:g.1014063T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.1014063T>A , CM000663.2:g.1014063T>A GRCh38
NC_000001.10:g.949443T>A , CM000663.1:g.949443T>A GRCh37
NC_000001.9:g.939306T>A NCBI36
NG_033033.1:g.5597T>A
NG_033033.2:g.17926T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000624697.4:c.59T>A ENSP00000485643.1:p.Leu20Gln
ENST00000649529.1:c.83T>A MANE Select ENSP00000496832.1:p.Leu28Gln
ENST00000379389.4:c.83T>A ENSP00000368699.4:p.Leu28Gln
ENST00000624652.1:c.59T>A ENSP00000485313.1:p.Leu20Gln
ENST00000624697.3:c.59T>A ENSP00000485643.1:p.Leu20Gln
NM_005101.3:c.83T>A NP_005092.1:p.Leu28Gln
NM_005101.4:c.83T>A MANE Select NP_005092.1:p.Leu28Gln
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