Canonical Allele Identifier: CA557054529
Gene: CYP4V2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.186205152A>G , CM000666.2:g.186205152A>G GRCh38
NC_000004.11:g.187126306A>G , CM000666.1:g.187126306A>G GRCh37
NC_000004.10:g.187363300A>G NCBI36
NG_007965.1:g.18633A>G
NG_012095.2:g.1174A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000378802.5:c.988-48A>G MANE Select ENSP00000368079.4:p.=
ENST00000378802.4:c.988-48A>G ENSP00000368079.4:p.=
ENST00000502665.1:n.223-48A>G
ENST00000507209.5:n.5638A>G
ENST00000513354.5:n.78-48A>G
NM_207352.3:c.988-48A>G NP_997235.3:p.=
XM_005262935.2:c.988-48A>G XP_005262992.1:p.=
XM_006714184.2:c.592-48A>G XP_006714247.1:p.=
XM_005262935.4:c.988-48A>G XP_005262992.1:p.=
XM_017008037.1:c.592-48A>G XP_016863526.1:p.=
NM_207352.4:c.988-48A>G MANE Select NP_997235.3:p.=