Canonical Allele Identifier: CA9269721

Gene: CYP4F22

Linked Data

• ClinVar Variation Id: 328438
• ClinVar RCV Id: RCV000382663
• dbSNP Id: rs549559441
• ExAC: 19:15651451 C / A
• gnomAD v2: 19-15651451-C-A
• gnomAD v3: 19-15540640-C-A
• gnomAD v4: 19-15540640-C-A
• MyVariant Identifiers: chr19:g.15651451C>A (hg19) ; chr19:g.15540640C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.15540640C>A , CM000681.2:g.15540640C>A	GRCh38
NC_000019.9:g.15651451C>A , CM000681.1:g.15651451C>A	GRCh37
NC_000019.8:g.15512451C>A	NCBI36
NG_007987.1:g.37116C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269703.8:c.862C>A MANE Select	ENSP00000269703.1:p.Gln288Lys
ENST00000269703.7:c.862C>A	ENSP00000269703.1:p.Gln288Lys
ENST00000601005.2:c.862C>A	ENSP00000469866.1:p.Gln288Lys
NM_173483.3:c.862C>A	NP_775754.2:p.Gln288Lys
XM_011527692.1:c.862C>A	XP_011525994.1:p.Gln288Lys
XM_011527693.1:c.862C>A	XP_011525995.1:p.Gln288Lys
XM_011527692.2:c.862C>A	XP_011525994.1:p.Gln288Lys
XM_011527693.2:c.862C>A	XP_011525995.1:p.Gln288Lys
NM_173483.4:c.862C>A MANE Select	NP_775754.2:p.Gln288Lys