Canonical Allele Identifier: CA632130274

Gene: CYP4F2

Linked Data

• dbSNP Id: rs1174453178
• gnomAD v2: 19-16008230-C-CTGG
• gnomAD v3: 19-15897420-C-CTGG
• gnomAD v4: 19-15897420-C-CTGG
• MyVariant Identifiers: chr19:g.16008230_16008231insTGG (hg19) ; chr19:g.15897420_15897421insTGG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.15897423_15897425dup , CM000681.2:g.15897423_15897425dup	GRCh38
NC_000019.9:g.16008233_16008235dup , CM000681.1:g.16008233_16008235dup	GRCh37
NC_000019.8:g.15869233_15869235dup	NCBI36
NG_007971.2:g.5652_5654dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000221700.11:c.189_191dup MANE Select	ENSP00000221700.3:p.His63_Gln64insHis
ENST00000011989.11:c.189_191dup	ENSP00000011989.8:p.His63_Gln64insHis
ENST00000221700.10:c.189_191dup	ENSP00000221700.3:p.His63_Gln64insHis
ENST00000392846.7:n.49+603_49+605dup
ENST00000586927.2:c.189_191dup	ENSP00000465514.1:p.His63_Gln64insHis
ENST00000587671.2:c.189_191dup	ENSP00000467443.2:p.His63_Gln64insHis
ENST00000608168.1:n.242_244dup
NM_001082.4:c.189_191dup	NP_001073.3:p.His63_Gln64insHis
NM_001082.5:c.189_191dup MANE Select	NP_001073.3:p.His63_Gln64insHis