Canonical Allele Identifier: CA1519892069
Gene: CYP4V2 HGNC NCBI
KLKB1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.186210516C= , CM000666.2:g.186210516C= GRCh38
NC_000004.11:g.187131670C= , CM000666.1:g.187131670C= GRCh37
NC_000004.10:g.187368664C= NCBI36
NG_007965.1:g.23997C=
NG_012095.2:g.6538C=

Transcript Alleles

HGVS Amino-acid change
ENST00000378802.5:c.1453C= (CYP4V2) MANE Select ENSP00000368079.4:p.Leu485=
ENST00000378802.4:c.1453C= (CYP4V2) ENSP00000368079.4:p.Leu485=
ENST00000502665.1:n.688C= (CYP4V2)
ENST00000507209.5:n.6151C= (CYP4V2)
ENST00000511608.5:c.201+1244C= (KLKB1)
ENST00000513354.5:n.543C= (CYP4V2)
NM_207352.3:c.1453C= (CYP4V2) NP_997235.3:p.Leu485=
XM_005262935.2:c.1450C= (CYP4V2) XP_005262992.1:p.Leu484=
XM_006714184.2:c.1057C= (CYP4V2) XP_006714247.1:p.Leu353=
XM_005262935.4:c.1450C= (CYP4V2) XP_005262992.1:p.Leu484=
XM_017008037.1:c.1057C= (CYP4V2) XP_016863526.1:p.Leu353=
NM_207352.4:c.1453C= (CYP4V2) MANE Select NP_997235.3:p.Leu485=