Canonical Allele Identifier: CA112132020

Gene: CYP4V2

Linked Data

• dbSNP Id: rs962649678
• gnomAD v2: 4-187126736-G-A
• gnomAD v3: 4-186205582-G-A
• gnomAD v4: 4-186205582-G-A
• MyVariant Identifiers: chr4:g.187126736G>A (hg19) ; chr4:g.186205582G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.186205582G>A , CM000666.2:g.186205582G>A	GRCh38
NC_000004.11:g.187126736G>A , CM000666.1:g.187126736G>A	GRCh37
NC_000004.10:g.187363730G>A	NCBI36
NG_007965.1:g.19063G>A
NG_012095.2:g.1604G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378802.5:c.1090+280G>A MANE Select	ENSP00000368079.4:n.1090+280G>A
ENST00000378802.4:c.1090+280G>A	ENSP00000368079.4:n.1090+280G>A
ENST00000502665.1:n.325+280G>A
ENST00000507209.5:n.5788+280G>A
ENST00000513354.5:n.180+280G>A
NM_207352.3:c.1090+280G>A	NP_997235.3:n.1090+280G>A
XM_005262935.2:c.1090+280G>A	XP_005262992.1:n.1090+280G>A
XM_006714184.2:c.694+280G>A	XP_006714247.1:n.694+280G>A
XM_005262935.4:c.1090+280G>A	XP_005262992.1:n.1090+280G>A
XM_017008037.1:c.694+280G>A	XP_016863526.1:n.694+280G>A
NM_207352.4:c.1090+280G>A MANE Select	NP_997235.3:n.1090+280G>A