Canonical Allele Identifier: CA9274154

Gene: CYP4F2

Linked Data

• dbSNP Id: rs752779520
• ExAC: 19:16008302 G / T
• gnomAD v2: 19-16008302-G-T
• MyVariant Identifiers: chr19:g.16008302G>T (hg19) ; chr19:g.15897492G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.15897492G>T , CM000681.2:g.15897492G>T	GRCh38
NC_000019.9:g.16008302G>T , CM000681.1:g.16008302G>T	GRCh37
NC_000019.8:g.15869302G>T	NCBI36
NG_007971.2:g.5583C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000221700.11:c.120C>A MANE Select	ENSP00000221700.3:p.Ala40=
ENST00000011989.11:c.120C>A	ENSP00000011989.8:p.Ala40=
ENST00000221700.10:c.120C>A	ENSP00000221700.3:p.Ala40=
ENST00000392846.7:n.49+534C>A
ENST00000586927.2:c.120C>A	ENSP00000465514.1:p.Ala40=
ENST00000587671.2:c.120C>A	ENSP00000467443.2:p.Ala40=
ENST00000608168.1:n.173C>A
NM_001082.4:c.120C>A	NP_001073.3:p.Ala40=
NM_001082.5:c.120C>A MANE Select	NP_001073.3:p.Ala40=