Canonical Allele Identifier: CA2578249696
Gene: CYP4V2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.186205334G>A , CM000666.2:g.186205334G>A GRCh38
NC_000004.11:g.187126488G>A , CM000666.1:g.187126488G>A GRCh37
NC_000004.10:g.187363482G>A NCBI36
NG_007965.1:g.18815G>A
NG_012095.2:g.1356G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000378802.5:c.1090+32G>A MANE Select ENSP00000368079.4:n.1090+32G>A
ENST00000378802.4:c.1090+32G>A ENSP00000368079.4:n.1090+32G>A
ENST00000502665.1:n.325+32G>A
ENST00000507209.5:n.5788+32G>A
ENST00000513354.5:n.180+32G>A
NM_207352.3:c.1090+32G>A NP_997235.3:n.1090+32G>A
XM_005262935.2:c.1090+32G>A XP_005262992.1:n.1090+32G>A
XM_006714184.2:c.694+32G>A XP_006714247.1:n.694+32G>A
XM_005262935.4:c.1090+32G>A XP_005262992.1:n.1090+32G>A
XM_017008037.1:c.694+32G>A XP_016863526.1:n.694+32G>A
NM_207352.4:c.1090+32G>A MANE Select NP_997235.3:n.1090+32G>A