Canonical Allele Identifier: CA1519891418
Gene: CYP4V2 HGNC NCBI
KLKB1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.186209122G= , CM000666.2:g.186209122G= GRCh38
NC_000004.11:g.187130276G= , CM000666.1:g.187130276G= GRCh37
NC_000004.10:g.187367270G= NCBI36
NG_007965.1:g.22603G=
NG_012095.2:g.5144G=

Transcript Alleles

HGVS Amino-acid change
ENST00000378802.5:c.1255G= (CYP4V2) MANE Select ENSP00000368079.4:p.Ala419=
ENST00000378802.4:c.1255G= (CYP4V2) ENSP00000368079.4:p.Ala419=
ENST00000502665.1:n.490G= (CYP4V2)
ENST00000507209.5:n.5953G= (CYP4V2)
ENST00000511608.5:c.51G= (KLKB1)
ENST00000513354.5:n.345G= (CYP4V2)
NM_207352.3:c.1255G= (CYP4V2) NP_997235.3:p.Ala419=
XM_005262935.2:c.1252G= (CYP4V2) XP_005262992.1:p.Ala418=
XM_006714184.2:c.859G= (CYP4V2) XP_006714247.1:p.Ala287=
XM_005262935.4:c.1252G= (CYP4V2) XP_005262992.1:p.Ala418=
XM_017008037.1:c.859G= (CYP4V2) XP_016863526.1:p.Ala287=
NM_207352.4:c.1255G= (CYP4V2) MANE Select NP_997235.3:p.Ala419=