Canonical Allele Identifier: CA1519892065
Gene: CYP4V2 HGNC NCBI
KLKB1 HGNC NCBI

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000378802.5:c.1445C= (CYP4V2) MANE Select ENSP00000368079.4:p.Ser482=
ENST00000378802.4:c.1445C= (CYP4V2) ENSP00000368079.4:p.Ser482=
ENST00000502665.1:n.680C= (CYP4V2)
ENST00000507209.5:n.6143C= (CYP4V2)
ENST00000511608.5:c.201+1236C= (KLKB1)
ENST00000513354.5:n.535C= (CYP4V2)
NM_207352.3:c.1445C= (CYP4V2) NP_997235.3:p.Ser482=
XM_005262935.2:c.1442C= (CYP4V2) XP_005262992.1:p.Ser481=
XM_006714184.2:c.1049C= (CYP4V2) XP_006714247.1:p.Ser350=
XM_005262935.4:c.1442C= (CYP4V2) XP_005262992.1:p.Ser481=
XM_017008037.1:c.1049C= (CYP4V2) XP_016863526.1:p.Ser350=
NM_207352.4:c.1445C= (CYP4V2) MANE Select NP_997235.3:p.Ser482=