Canonical Allele Identifier: CA415756420
Gene: ISG15 HGNC NCBI

Linked Data

dbSNP Id: rs1644248792
gnomAD v3: 1-1014140-C-T
gnomAD v4: 1-1014140-C-T
MyVariant Identifiers: chr1:g.949520C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.1014140C>T , CM000663.2:g.1014140C>T GRCh38
NC_000001.10:g.949520C>T , CM000663.1:g.949520C>T GRCh37
NC_000001.9:g.939383C>T NCBI36
NG_033033.1:g.5674C>T
NG_033033.2:g.18003C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000624697.4:c.136C>T ENSP00000485643.1:p.Leu46=
ENST00000649529.1:c.160C>T MANE Select ENSP00000496832.1:p.Leu54=
ENST00000379389.4:c.160C>T ENSP00000368699.4:p.Leu54=
ENST00000624652.1:c.136C>T ENSP00000485313.1:p.Leu46=
ENST00000624697.3:c.136C>T ENSP00000485643.1:p.Leu46=
NM_005101.3:c.160C>T NP_005092.1:p.Leu54=
NM_005101.4:c.160C>T MANE Select NP_005092.1:p.Leu54=