Canonical Allele Identifier: CA112131478

Gene: CYP4V2

Linked Data

• dbSNP Id: rs1044262870
• gnomAD v4: 4-186205051-G-A
• MyVariant Identifiers: chr4:g.187126205G>A (hg19) ; chr4:g.186205051G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.186205051G>A , CM000666.2:g.186205051G>A	GRCh38
NC_000004.11:g.187126205G>A , CM000666.1:g.187126205G>A	GRCh37
NC_000004.10:g.187363199G>A	NCBI36
NG_007965.1:g.18532G>A
NG_012095.2:g.1073G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000378802.5:c.988-149G>A MANE Select	ENSP00000368079.4:n.988-149G>A
ENST00000378802.4:c.988-149G>A	ENSP00000368079.4:n.988-149G>A
ENST00000502665.1:n.215G>A
ENST00000507209.5:n.5537G>A
ENST00000513354.5:n.78-149G>A
NM_207352.3:c.988-149G>A	NP_997235.3:n.988-149G>A
XM_005262935.2:c.988-149G>A	XP_005262992.1:n.988-149G>A
XM_006714184.2:c.592-149G>A	XP_006714247.1:n.592-149G>A
XM_005262935.4:c.988-149G>A	XP_005262992.1:n.988-149G>A
XM_017008037.1:c.592-149G>A	XP_016863526.1:n.592-149G>A
NM_207352.4:c.988-149G>A MANE Select	NP_997235.3:n.988-149G>A