Canonical Allele Identifier: CA507658
Gene: ISG15 HGNC NCBI
COSMIC:
COSM3751464 (not active)
MyVariant.info:
GRCh38 chr1:g.1014228G>A
GRCh37 chr1:g.949608G>A
Revel Score:
ENST00000379389 0.047
gnomAD v2:
1:949608 G / A
gnomAD v3:
1:1014228 G / A
gnomAD v4:
chr1-1014228-G-A
Joint Max Group AF 0.40234417 (AFR)
Genomes Max Group AF 0.40033384 (AFR)
Exomes Max Group AF 0.40131854 (AFR)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.1014228G>A , CM000663.2:g.1014228G>A GRCh38
NC_000001.10:g.949608G>A , CM000663.1:g.949608G>A GRCh37
NC_000001.9:g.939471G>A NCBI36
NG_033033.1:g.5762G>A
NG_033033.2:g.18091G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000624697.4:c.224G>A ENSP00000485643.1:p.Ser75Asn
ENST00000649529.1:c.248G>A MANE Select ENSP00000496832.1:p.Ser83Asn
ENST00000379389.4:c.248G>A ENSP00000368699.4:p.Ser83Asn
ENST00000624652.1:c.224G>A ENSP00000485313.1:p.Ser75Asn
ENST00000624697.3:c.224G>A ENSP00000485643.1:p.Ser75Asn
NM_005101.3:c.248G>A NP_005092.1:p.Ser83Asn
NM_005101.4:c.248G>A MANE Select NP_005092.1:p.Ser83Asn
Search 100 bp 5'
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