Canonical Allele Identifier: CA3162763

Gene: CYP4V2

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.186208877G>A , CM000666.2:g.186208877G>A	GRCh38
NC_000004.11:g.187130031G>A , CM000666.1:g.187130031G>A	GRCh37
NC_000004.10:g.187367025G>A	NCBI36
NG_007965.1:g.22358G>A
NG_012095.2:g.4899G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_207352.4:c.1103G>A MANE Select	NP_997235.3:p.Arg368His
ENST00000378802.5:c.1103G>A MANE Select	ENSP00000368079.4:p.Arg368His
NM_207352.3:c.1103G>A	NP_997235.3:p.Arg368His
ENST00000378802.4:c.1103G>A	ENSP00000368079.4:p.Arg368His
ENST00000502665.1:n.338G>A
ENST00000507209.5:n.5801G>A
ENST00000513354.5:n.193G>A
XM_005262935.2:c.1103G>A	XP_005262992.1:p.Arg368His
XM_005262935.4:c.1103G>A	XP_005262992.1:p.Arg368His
XM_006714184.2:c.707G>A	XP_006714247.1:p.Arg236His
XM_017008037.1:c.707G>A	XP_016863526.1:p.Arg236His