Canonical Allele Identifier: CA305878618
Gene: CYP4F2 HGNC NCBI
MyVariant.info:
GRCh38 chr19:g.15878230C>G
gnomAD v3:
19:15878230 C / G
gnomAD v4:
chr19-15878230-C-G
Joint Max Group AF 0.22958293 (NFE)
Genomes Max Group AF 0.2296965 (NFE)
Exomes Max Group AF 0.17073757 (NFE)
dbSNP:
1272
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.15878230C>G , CM000681.2:g.15878230C>G GRCh38
NG_007971.2:g.24845G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000221700.11:c.*541G>C MANE Select ENSP00000221700.3:n.*541G>C
ENST00000221700.10:c.*541G>C ENSP00000221700.3:n.*541G>C
ENST00000392846.7:n.2047G>C
NM_001082.4:c.*541G>C NP_001073.3:n.*541G>C
NM_001082.5:c.*541G>C MANE Select NP_001073.3:n.*541G>C
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