Canonical Allele Identifier: CA3162717

Gene: CYP4V2

Linked Data

• dbSNP Id: rs758324342
• ExAC: 4:187126317 ACT / A
• gnomAD: 4:187126317 ACT / A
• MyVariant Identifiers: chr4:g.187126318_187126319del (hg19) ; chr4:g.186205164_186205165del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.186205166_186205167del , CM000666.2:g.186205166_186205167del	GRCh38
NC_000004.11:g.187126320_187126321del , CM000666.1:g.187126320_187126321del	GRCh37
NC_000004.10:g.187363314_187363315del	NCBI36
NG_007965.1:g.18647_18648del
NG_012095.2:g.1188_1189del

Transcript Alleles

HGVS	Amino-acid change
ENST00000378802.5:c.988-34_988-33del MANE Select	ENSP00000368079.4:p.=
ENST00000378802.4:c.988-34_988-33del	ENSP00000368079.4:p.=
ENST00000502665.1:n.223-34_223-33del
ENST00000507209.5:n.5652_5653del
ENST00000513354.5:n.78-34_78-33del
NM_207352.3:c.988-34_988-33del	NP_997235.3:p.=
XM_005262935.2:c.988-34_988-33del	XP_005262992.1:p.=
XM_006714184.2:c.592-34_592-33del	XP_006714247.1:p.=
XM_005262935.4:c.988-34_988-33del	XP_005262992.1:p.=
XM_017008037.1:c.592-34_592-33del	XP_016863526.1:p.=
NM_207352.4:c.988-34_988-33del MANE Select	NP_997235.3:p.=