Canonical Allele Identifier: CA9190084
Gene: ICAM1 HGNC NCBI
COSMIC:
COSM4998797 (not active)
MyVariant.info:
GRCh38 chr19:g.10285007A>G
GRCh37 chr19:g.10395683A>G
Revel Score:
ENST00000264832 (MANE Select) 0.020
ENST00000423829 0.020
gnomAD v2:
19:10395683 A / G
gnomAD v3:
19:10285007 A / G
gnomAD v4:
chr19-10285007-A-G
Joint Max Group AF 0.55922266 (AMR)
Genomes Max Group AF 0.49094862 (AMR)
Exomes Max Group AF 0.58023329 (AMR)
ClinVar RCV:
RCV003982106
ClinVar Variation:
3060077
dbSNP:
5498
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.10285007A>G , CM000681.2:g.10285007A>G GRCh38
NC_000019.9:g.10395683A>G , CM000681.1:g.10395683A>G GRCh37
NC_000019.8:g.10256683A>G NCBI36
NG_007728.1:g.3034A>G
NG_012083.1:g.19167A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000264832.8:c.1405A>G MANE Select ENSP00000264832.2:p.Lys469Glu
ENST00000264832.7:c.1405A>G ENSP00000264832.2:p.Lys469Glu
ENST00000423829.2:c.739A>G ENSP00000413124.2:p.Lys247Glu
NM_000201.2:c.1405A>G NP_000192.2:p.Lys469Glu
NM_000201.3:c.1405A>G MANE Select NP_000192.2:p.Lys469Glu
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