Canonical Allele Identifier: CA337805402
Gene: ISG15 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.1014359G>A
GRCh37 chr1:g.949739G>A
Revel Score:
ENST00000379389 0.224
gnomAD v2:
1:949739 G / A
gnomAD v4:
chr1-1014359-G-A
Joint Max Group AF 0.00000442 (AFR)
Exomes Max Group AF 0.00000989 (AFR)
ClinVar RCV:
RCV000803367
ClinVar Variation:
648609
dbSNP:
672601312
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.1014359G>A , CM000663.2:g.1014359G>A GRCh38
NC_000001.10:g.949739G>A , CM000663.1:g.949739G>A GRCh37
NC_000001.9:g.939602G>A NCBI36
NG_033033.1:g.5893G>A
NG_033033.2:g.18222G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000624697.4:c.355G>A ENSP00000485643.1:p.Glu119Lys
ENST00000649529.1:c.379G>A MANE Select ENSP00000496832.1:p.Glu127Lys
ENST00000379389.4:c.379G>A ENSP00000368699.4:p.Glu127Lys
ENST00000624652.1:c.355G>A ENSP00000485313.1:p.Glu119Lys
ENST00000624697.3:c.355G>A ENSP00000485643.1:p.Glu119Lys
NM_005101.3:c.379G>A NP_005092.1:p.Glu127Lys
NM_005101.4:c.379G>A MANE Select NP_005092.1:p.Glu127Lys
Search 100 bp 5'
Search 100 bp 3'