Canonical Allele Identifier: CA1519892072
Gene: CYP4V2 HGNC NCBI
KLKB1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.186210522C= , CM000666.2:g.186210522C= GRCh38
NC_000004.11:g.187131676C= , CM000666.1:g.187131676C= GRCh37
NC_000004.10:g.187368670C= NCBI36
NG_007965.1:g.24003C=
NG_012095.2:g.6544C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000378802.5:c.1459C= (CYP4V2) MANE Select ENSP00000368079.4:p.His487=
ENST00000378802.4:c.1459C= (CYP4V2) ENSP00000368079.4:p.His487=
ENST00000502665.1:n.694C= (CYP4V2)
ENST00000507209.5:n.6157C= (CYP4V2)
ENST00000511608.5:c.201+1250C= (KLKB1)
ENST00000513354.5:n.549C= (CYP4V2)
NM_207352.3:c.1459C= (CYP4V2) NP_997235.3:p.His487=
XM_005262935.2:c.1456C= (CYP4V2) XP_005262992.1:p.His486=
XM_006714184.2:c.1063C= (CYP4V2) XP_006714247.1:p.His355=
XM_005262935.4:c.1456C= (CYP4V2) XP_005262992.1:p.His486=
XM_017008037.1:c.1063C= (CYP4V2) XP_016863526.1:p.His355=
NM_207352.4:c.1459C= (CYP4V2) MANE Select NP_997235.3:p.His487=