Canonical Allele Identifier: CA114618

Gene: CYP4F22

Linked Data

• ClinVar Variation Id: 911
• ClinVar RCV Id: RCV000000959 ; RCV001731266
• dbSNP Id: rs118203937
• ExAC: 19:15651317 G / A
• gnomAD v2: 19-15651317-G-A
• gnomAD v3: 19-15540506-G-A
• gnomAD v4: 19-15540506-G-A
• MyVariant Identifiers: chr19:g.15651317G>A (hg19) ; chr19:g.15540506G>A (hg38)
• PubMed: PMID:16436457

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.15540506G>A , CM000681.2:g.15540506G>A	GRCh38
NC_000019.9:g.15651317G>A , CM000681.1:g.15651317G>A	GRCh37
NC_000019.8:g.15512317G>A	NCBI36
NG_007987.1:g.36982G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269703.8:c.728G>A MANE Select	ENSP00000269703.1:p.Arg243His
ENST00000269703.7:c.728G>A	ENSP00000269703.1:p.Arg243His
ENST00000601005.2:c.728G>A	ENSP00000469866.1:p.Arg243His
NM_173483.3:c.728G>A	NP_775754.2:p.Arg243His
XM_011527692.1:c.728G>A	XP_011525994.1:p.Arg243His
XM_011527693.1:c.728G>A	XP_011525995.1:p.Arg243His
XM_011527692.2:c.728G>A	XP_011525994.1:p.Arg243His
XM_011527693.2:c.728G>A	XP_011525995.1:p.Arg243His
NM_173483.4:c.728G>A MANE Select	NP_775754.2:p.Arg243His