Canonical Allele Identifier: CA9269717

Gene: CYP4F22

Linked Data

• ClinVar Variation Id: 2324212
• ClinVar RCV Id: RCV002902807
• dbSNP Id: rs755129541
• ExAC: 19:15651440 G / A
• gnomAD v2: 19-15651440-G-A
• gnomAD v3: 19-15540629-G-A
• gnomAD v4: 19-15540629-G-A
• COSMIC: COSM3283855
• MyVariant Identifiers: chr19:g.15651440G>A (hg19) ; chr19:g.15540629G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.15540629G>A , CM000681.2:g.15540629G>A	GRCh38
NC_000019.9:g.15651440G>A , CM000681.1:g.15651440G>A	GRCh37
NC_000019.8:g.15512440G>A	NCBI36
NG_007987.1:g.37105G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269703.8:c.851G>A MANE Select	ENSP00000269703.1:p.Arg284Gln
ENST00000269703.7:c.851G>A	ENSP00000269703.1:p.Arg284Gln
ENST00000601005.2:c.851G>A	ENSP00000469866.1:p.Arg284Gln
NM_173483.3:c.851G>A	NP_775754.2:p.Arg284Gln
XM_011527692.1:c.851G>A	XP_011525994.1:p.Arg284Gln
XM_011527693.1:c.851G>A	XP_011525995.1:p.Arg284Gln
XM_011527692.2:c.851G>A	XP_011525994.1:p.Arg284Gln
XM_011527693.2:c.851G>A	XP_011525995.1:p.Arg284Gln
NM_173483.4:c.851G>A MANE Select	NP_775754.2:p.Arg284Gln