Canonical Allele Identifier: CA2672896939

Gene: CYP4V2

Linked Data

• gnomAD v4: 4-186205316-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.186205316C>T , CM000666.2:g.186205316C>T	GRCh38
NC_000004.11:g.187126470C>T , CM000666.1:g.187126470C>T	GRCh37
NC_000004.10:g.187363464C>T	NCBI36
NG_007965.1:g.18797C>T
NG_012095.2:g.1338C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378802.5:c.1090+14C>T MANE Select	ENSP00000368079.4:n.1090+14C>T
ENST00000378802.4:c.1090+14C>T	ENSP00000368079.4:n.1090+14C>T
ENST00000502665.1:n.325+14C>T
ENST00000507209.5:n.5788+14C>T
ENST00000513354.5:n.180+14C>T
NM_207352.3:c.1090+14C>T	NP_997235.3:n.1090+14C>T
XM_005262935.2:c.1090+14C>T	XP_005262992.1:n.1090+14C>T
XM_006714184.2:c.694+14C>T	XP_006714247.1:n.694+14C>T
XM_005262935.4:c.1090+14C>T	XP_005262992.1:n.1090+14C>T
XM_017008037.1:c.694+14C>T	XP_016863526.1:n.694+14C>T
NM_207352.4:c.1090+14C>T MANE Select	NP_997235.3:n.1090+14C>T