Canonical Allele Identifier: CA507635
Gene: ISG15 HGNC NCBI

Linked Data

ClinVar Variation Id: 1644340
ClinVar RCV Id: RCV002140482 RCV003481261
dbSNP Id: rs139516378
ExAC: 1:949511 G / T
gnomAD v2: 1-949511-G-T
gnomAD v3: 1-1014131-G-T
gnomAD v4: 1-1014131-G-T
MyVariant Identifiers: chr1:g.949511G>T (hg19) chr1:g.1014131G>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.1014131G>T , CM000663.2:g.1014131G>T GRCh38
NC_000001.10:g.949511G>T , CM000663.1:g.949511G>T GRCh37
NC_000001.9:g.939374G>T NCBI36
NG_033033.1:g.5665G>T
NG_033033.2:g.17994G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000624697.4:c.127G>T ENSP00000485643.1:p.Gly43Cys
ENST00000649529.1:c.151G>T MANE Select ENSP00000496832.1:p.Gly51Cys
ENST00000379389.4:c.151G>T ENSP00000368699.4:p.Gly51Cys
ENST00000624652.1:c.127G>T ENSP00000485313.1:p.Gly43Cys
ENST00000624697.3:c.127G>T ENSP00000485643.1:p.Gly43Cys
NM_005101.3:c.151G>T NP_005092.1:p.Gly51Cys
NM_005101.4:c.151G>T MANE Select NP_005092.1:p.Gly51Cys
Search 100 bp 5'
Search 100 bp 3'