Canonical Allele Identifier: CA507628

Gene: ISG15

Linked Data

• ClinVar Variation Id: 542074
• ClinVar RCV Id: RCV000652450 ; RCV002261159 ; RCV004025865
• dbSNP Id: rs150861311
• ExAC: 1:949502 C / T
• gnomAD v2: 1-949502-C-T
• gnomAD v3: 1-1014122-C-T
• gnomAD v4: 1-1014122-C-T
• MyVariant Identifiers: chr1:g.949502C>T (hg19) ; chr1:g.1014122C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.1014122C>T , CM000663.2:g.1014122C>T	GRCh38
NC_000001.10:g.949502C>T , CM000663.1:g.949502C>T	GRCh37
NC_000001.9:g.939365C>T	NCBI36
NG_033033.1:g.5656C>T
NG_033033.2:g.17985C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000624697.4:c.118C>T	ENSP00000485643.1:p.His40Tyr
ENST00000649529.1:c.142C>T MANE Select	ENSP00000496832.1:p.His48Tyr
ENST00000379389.4:c.142C>T	ENSP00000368699.4:p.His48Tyr
ENST00000624652.1:c.118C>T	ENSP00000485313.1:p.His40Tyr
ENST00000624697.3:c.118C>T	ENSP00000485643.1:p.His40Tyr
NM_005101.3:c.142C>T	NP_005092.1:p.His48Tyr
NM_005101.4:c.142C>T MANE Select	NP_005092.1:p.His48Tyr