Canonical Allele Identifier: CA9269739

Gene: CYP4F22

Linked Data

• ClinVar Variation Id: 328441
• ClinVar RCV Id: RCV000383367 ; RCV001660678 ; RCV001636926
• dbSNP Id: rs537649124
• ExAC: 19:15651539 GCC / G
• gnomAD v2: 19-15651539-GCC-G
• gnomAD v3: 19-15540728-GCC-G
• gnomAD v4: 19-15540728-GCC-G
• COSMIC: COSN23385185 ; COSN24840610
• MyVariant Identifiers: chr19:g.15651543_15651544del (hg19) ; chr19:g.15651540_15651541del (hg19) ; chr19:g.15540732_15540733del (hg38) ; chr19:g.15540729_15540730del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.15540732_15540733del , CM000681.2:g.15540732_15540733del	GRCh38
NC_000019.9:g.15651543_15651544del , CM000681.1:g.15651543_15651544del	GRCh37
NC_000019.8:g.15512543_15512544del	NCBI36
NG_007987.1:g.37208_37209del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269703.8:c.939+15_939+16del MANE Select	ENSP00000269703.1:n.939+15_939+16del
ENST00000269703.7:c.939+15_939+16del	ENSP00000269703.1:n.939+15_939+16del
ENST00000601005.2:c.939+15_939+16del	ENSP00000469866.1:n.939+15_939+16del
NM_173483.3:c.939+15_939+16del	NP_775754.2:n.939+15_939+16del
XM_011527692.1:c.939+15_939+16del	XP_011525994.1:n.939+15_939+16del
XM_011527693.1:c.939+15_939+16del	XP_011525995.1:n.939+15_939+16del
XM_011527692.2:c.939+15_939+16del	XP_011525994.1:n.939+15_939+16del
XM_011527693.2:c.939+15_939+16del	XP_011525995.1:n.939+15_939+16del
NM_173483.4:c.939+15_939+16del MANE Select	NP_775754.2:n.939+15_939+16del