Canonical Allele Identifier: CA1519892085
Gene: CYP4V2 HGNC NCBI
KLKB1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.186210555G= , CM000666.2:g.186210555G= GRCh38
NC_000004.11:g.187131709G= , CM000666.1:g.187131709G= GRCh37
NC_000004.10:g.187368703G= NCBI36
NG_007965.1:g.24036G=
NG_012095.2:g.6577G=

Transcript Alleles

HGVS Amino-acid change
ENST00000378802.5:c.1492G= (CYP4V2) MANE Select ENSP00000368079.4:p.Glu498=
ENST00000378802.4:c.1492G= (CYP4V2) ENSP00000368079.4:p.Glu498=
ENST00000502665.1:n.727G= (CYP4V2)
ENST00000507209.5:n.6190G= (CYP4V2)
ENST00000511608.5:c.201+1283G= (KLKB1)
ENST00000513354.5:n.582G= (CYP4V2)
NM_207352.3:c.1492G= (CYP4V2) NP_997235.3:p.Glu498=
XM_005262935.2:c.1489G= (CYP4V2) XP_005262992.1:p.Glu497=
XM_006714184.2:c.1096G= (CYP4V2) XP_006714247.1:p.Glu366=
XM_005262935.4:c.1489G= (CYP4V2) XP_005262992.1:p.Glu497=
XM_017008037.1:c.1096G= (CYP4V2) XP_016863526.1:p.Glu366=
NM_207352.4:c.1492G= (CYP4V2) MANE Select NP_997235.3:p.Glu498=