Canonical Allele Identifier: CA305909505

Gene: CYP4F2

Linked Data

• dbSNP Id: rs927129700
• gnomAD v3: 19-15897424-TGTCCCCAAAACCA-T
• gnomAD v4: 19-15897424-TGTCCCCAAAACCA-T
• MyVariant Identifiers: chr19:g.16008235_16008247del (hg19) ; chr19:g.15897425_15897437del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.15897427_15897439del , CM000681.2:g.15897427_15897439del	GRCh38
NC_000019.9:g.16008237_16008249del , CM000681.1:g.16008237_16008249del	GRCh37
NC_000019.8:g.15869237_15869249del	NCBI36
NG_007971.2:g.5638_5650del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000221700.11:c.175_187del MANE Select	ENSP00000221700.3:p.Trp59ThrfsTer12
ENST00000011989.11:c.175_187del	ENSP00000011989.8:p.Trp59ThrfsTer4
ENST00000221700.10:c.175_187del	ENSP00000221700.3:p.Trp59ThrfsTer12
ENST00000392846.7:n.49+589_49+601del
ENST00000586927.2:c.175_187del	ENSP00000465514.1:p.Trp59ThrfsTer12
ENST00000587671.2:c.175_187del	ENSP00000467443.2:p.Trp59ThrfsTer?
ENST00000608168.1:n.228_240del
NM_001082.4:c.175_187del	NP_001073.3:p.Trp59ThrfsTer12
NM_001082.5:c.175_187del MANE Select	NP_001073.3:p.Trp59ThrfsTer12