Canonical Allele Identifier: CA358949262

Gene: CYP4V2

Linked Data

• MyVariant Identifiers: chr4:g.187126376C>T (hg19) ; chr4:g.186205222C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.186205222C>T , CM000666.2:g.186205222C>T	GRCh38
NC_000004.11:g.187126376C>T , CM000666.1:g.187126376C>T	GRCh37
NC_000004.10:g.187363370C>T	NCBI36
NG_007965.1:g.18703C>T
NG_012095.2:g.1244C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000378802.5:c.1010C>T MANE Select	ENSP00000368079.4:p.Ala337Val
ENST00000378802.4:c.1010C>T	ENSP00000368079.4:p.Ala337Val
ENST00000502665.1:n.245C>T
ENST00000507209.5:n.5708C>T
ENST00000513354.5:n.100C>T
NM_207352.3:c.1010C>T	NP_997235.3:p.Ala337Val
XM_005262935.2:c.1010C>T	XP_005262992.1:p.Ala337Val
XM_006714184.2:c.614C>T	XP_006714247.1:p.Ala205Val
XM_005262935.4:c.1010C>T	XP_005262992.1:p.Ala337Val
XM_017008037.1:c.614C>T	XP_016863526.1:p.Ala205Val
NM_207352.4:c.1010C>T MANE Select	NP_997235.3:p.Ala337Val