Canonical Allele Identifier: CA1519891462
Gene: CYP4V2 HGNC NCBI
KLKB1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.186209199C= , CM000666.2:g.186209199C= GRCh38
NC_000004.11:g.187130353C= , CM000666.1:g.187130353C= GRCh37
NC_000004.10:g.187367347C= NCBI36
NG_007965.1:g.22680C=
NG_012095.2:g.5221C=

Transcript Alleles

HGVS Amino-acid change
ENST00000378802.5:c.1332C= (CYP4V2) MANE Select ENSP00000368079.4:p.Phe444=
ENST00000378802.4:c.1332C= (CYP4V2) ENSP00000368079.4:p.Phe444=
ENST00000502665.1:n.567C= (CYP4V2)
ENST00000507209.5:n.6030C= (CYP4V2)
ENST00000511608.5:c.128C= (KLKB1)
ENST00000513354.5:n.422C= (CYP4V2)
NM_207352.3:c.1332C= (CYP4V2) NP_997235.3:p.Phe444=
XM_005262935.2:c.1329C= (CYP4V2) XP_005262992.1:p.Phe443=
XM_006714184.2:c.936C= (CYP4V2) XP_006714247.1:p.Phe312=
XM_005262935.4:c.1329C= (CYP4V2) XP_005262992.1:p.Phe443=
XM_017008037.1:c.936C= (CYP4V2) XP_016863526.1:p.Phe312=
NM_207352.4:c.1332C= (CYP4V2) MANE Select NP_997235.3:p.Phe444=