Canonical Allele Identifier: CA358949289

Gene: CYP4V2

Linked Data

• MyVariant Identifiers: chr4:g.187126384T>A (hg19) ; chr4:g.186205230T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.186205230T>A , CM000666.2:g.186205230T>A	GRCh38
NC_000004.11:g.187126384T>A , CM000666.1:g.187126384T>A	GRCh37
NC_000004.10:g.187363378T>A	NCBI36
NG_007965.1:g.18711T>A
NG_012095.2:g.1252T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378802.5:c.1018T>A MANE Select	ENSP00000368079.4:p.Trp340Arg
ENST00000378802.4:c.1018T>A	ENSP00000368079.4:p.Trp340Arg
ENST00000502665.1:n.253T>A
ENST00000507209.5:n.5716T>A
ENST00000513354.5:n.108T>A
NM_207352.3:c.1018T>A	NP_997235.3:p.Trp340Arg
XM_005262935.2:c.1018T>A	XP_005262992.1:p.Trp340Arg
XM_006714184.2:c.622T>A	XP_006714247.1:p.Trp208Arg
XM_005262935.4:c.1018T>A	XP_005262992.1:p.Trp340Arg
XM_017008037.1:c.622T>A	XP_016863526.1:p.Trp208Arg
NM_207352.4:c.1018T>A MANE Select	NP_997235.3:p.Trp340Arg