Canonical Allele Identifier: CA1519891437
Gene: CYP4V2 HGNC NCBI
KLKB1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.186209156C= , CM000666.2:g.186209156C= GRCh38
NC_000004.11:g.187130310C= , CM000666.1:g.187130310C= GRCh37
NC_000004.10:g.187367304C= NCBI36
NG_007965.1:g.22637C=
NG_012095.2:g.5178C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000378802.5:c.1289C= (CYP4V2) MANE Select ENSP00000368079.4:p.Pro430=
ENST00000378802.4:c.1289C= (CYP4V2) ENSP00000368079.4:p.Pro430=
ENST00000502665.1:n.524C= (CYP4V2)
ENST00000507209.5:n.5987C= (CYP4V2)
ENST00000511608.5:c.85C= (KLKB1)
ENST00000513354.5:n.379C= (CYP4V2)
NM_207352.3:c.1289C= (CYP4V2) NP_997235.3:p.Pro430=
XM_005262935.2:c.1286C= (CYP4V2) XP_005262992.1:p.Pro429=
XM_006714184.2:c.893C= (CYP4V2) XP_006714247.1:p.Pro298=
XM_005262935.4:c.1286C= (CYP4V2) XP_005262992.1:p.Pro429=
XM_017008037.1:c.893C= (CYP4V2) XP_016863526.1:p.Pro298=
NM_207352.4:c.1289C= (CYP4V2) MANE Select NP_997235.3:p.Pro430=