Canonical Allele Identifier: CA343719
Gene: CYP4V2 HGNC NCBI

Linked Data

ClinVar Variation Id: 39257
ClinVar RCV Id: RCV000032534
dbSNP Id: rs146494374

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.186210508C>A , CM000666.2:g.186210508C>A GRCh38
NC_000004.11:g.187131662C>A , CM000666.1:g.187131662C>A GRCh37
NC_000004.10:g.187368656C>A NCBI36
NG_007965.1:g.23989C>A
NG_012095.2:g.6530C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000378802.5:c.1445C>A MANE Select ENSP00000368079.4:p.Ser482Ter
ENST00000378802.4:c.1445C>A ENSP00000368079.4:p.Ser482Ter
ENST00000502665.1:n.680C>A
ENST00000507209.5:n.6143C>A
ENST00000511608.5:n.201+1236C>A
ENST00000513354.5:n.535C>A
NM_207352.3:c.1445C>A NP_997235.3:p.Ser482Ter
XM_005262935.2:c.1442C>A XP_005262992.1:p.Ser481Ter
XM_006714184.2:c.1049C>A XP_006714247.1:p.Ser350Ter
XM_005262935.4:c.1442C>A XP_005262992.1:p.Ser481Ter
XM_017008037.1:c.1049C>A XP_016863526.1:p.Ser350Ter
NM_207352.4:c.1445C>A MANE Select NP_997235.3:p.Ser482Ter