Canonical Allele Identifier: CA9273540
Gene: CYP4F2 HGNC NCBI
COSMIC:
COSM4984921 (not active)
MyVariant.info:
GRCh38 chr19:g.15878779G>T
GRCh37 chr19:g.15989589G>T
Revel Score:
ENST00000221700 (MANE Select) 0.223
ENST00000392846 0.223
gnomAD v2:
19:15989589 G / T
gnomAD v3:
19:15878779 G / T
gnomAD v4:
chr19-15878779-G-T
Joint Max Group AF 0.13895919 (AFR)
Genomes Max Group AF 0.13690448 (AFR)
Exomes Max Group AF 0.13943968 (AFR)
ClinVar RCV:
RCV003979017
ClinVar Variation:
3056325
dbSNP:
3093200
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.15878779G>T , CM000681.2:g.15878779G>T GRCh38
NC_000019.9:g.15989589G>T , CM000681.1:g.15989589G>T GRCh37
NC_000019.8:g.15850589G>T NCBI36
NG_007971.2:g.24296C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000221700.11:c.1555C>A MANE Select ENSP00000221700.3:p.Leu519Met
ENST00000011989.11:c.1555C>A ENSP00000011989.8:p.Leu519Met
ENST00000221700.10:c.1555C>A ENSP00000221700.3:p.Leu519Met
ENST00000392846.7:n.1498C>A
ENST00000589654.2:c.343C>A
NM_001082.4:c.1555C>A NP_001073.3:p.Leu519Met
NM_001082.5:c.1555C>A MANE Select NP_001073.3:p.Leu519Met
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