Canonical Allele Identifier: CA507594

Gene: ISG15

Linked Data

• ClinVar Variation Id: 2085125
• ClinVar RCV Id: RCV002996117 ; RCV004068460
• dbSNP Id: rs199853706
• ExAC: 1:949377 C / T
• gnomAD v2: 1-949377-C-T
• gnomAD v3: 1-1013997-C-T
• gnomAD v4: 1-1013997-C-T
• MyVariant Identifiers: chr1:g.949377C>T (hg19) ; chr1:g.1013997C>T (hg38)

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