Canonical Allele Identifier: CA358949242

Gene: CYP4V2

Linked Data

• ClinVar Variation Id: 1386517
• ClinVar RCV Id: RCV001875330
• dbSNP Id: rs2126595445
• MyVariant Identifiers: chr4:g.187126370C>A (hg19) ; chr4:g.186205216C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.186205216C>A , CM000666.2:g.186205216C>A	GRCh38
NC_000004.11:g.187126370C>A , CM000666.1:g.187126370C>A	GRCh37
NC_000004.10:g.187363364C>A	NCBI36
NG_007965.1:g.18697C>A
NG_012095.2:g.1238C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378802.5:c.1004C>A MANE Select	ENSP00000368079.4:p.Ala335Glu
ENST00000378802.4:c.1004C>A	ENSP00000368079.4:p.Ala335Glu
ENST00000502665.1:n.239C>A
ENST00000507209.5:n.5702C>A
ENST00000513354.5:n.94C>A
NM_207352.3:c.1004C>A	NP_997235.3:p.Ala335Glu
XM_005262935.2:c.1004C>A	XP_005262992.1:p.Ala335Glu
XM_006714184.2:c.608C>A	XP_006714247.1:p.Ala203Glu
XM_005262935.4:c.1004C>A	XP_005262992.1:p.Ala335Glu
XM_017008037.1:c.608C>A	XP_016863526.1:p.Ala203Glu
NM_207352.4:c.1004C>A MANE Select	NP_997235.3:p.Ala335Glu