Canonical Allele Identifier: CA649569176

Gene: CYP4V2

Linked Data

• dbSNP Id: rs1736607250
• gnomAD v3: 4-186208748-T-A
• gnomAD v4: 4-186208748-T-A
• COSMIC: COSN154379

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.186208748T>A , CM000666.2:g.186208748T>A	GRCh38
NC_000004.11:g.187129902T>A , CM000666.1:g.187129902T>A	GRCh37
NC_000004.10:g.187366896T>A	NCBI36
NG_007965.1:g.22229T>A
NG_012095.2:g.4770T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378802.5:c.1091-117T>A MANE Select	ENSP00000368079.4:n.1091-117T>A
ENST00000378802.4:c.1091-117T>A	ENSP00000368079.4:n.1091-117T>A
ENST00000502665.1:n.326-117T>A
ENST00000507209.5:n.5789-117T>A
ENST00000513354.5:n.181-117T>A
NM_207352.3:c.1091-117T>A	NP_997235.3:n.1091-117T>A
XM_005262935.2:c.1091-117T>A	XP_005262992.1:n.1091-117T>A
XM_006714184.2:c.695-117T>A	XP_006714247.1:n.695-117T>A
XM_005262935.4:c.1091-117T>A	XP_005262992.1:n.1091-117T>A
XM_017008037.1:c.695-117T>A	XP_016863526.1:n.695-117T>A
NM_207352.4:c.1091-117T>A MANE Select	NP_997235.3:n.1091-117T>A