Canonical Allele Identifier: CA358951182
Community Standard Title: NM_207352.4(CYP4V2):c.1526C>G (p.Pro509Arg)
Gene: CYP4V2 HGNC NCBI
KLKB1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.186210589C>G , CM000666.2:g.186210589C>G GRCh38
NC_000004.11:g.187131743C>G , CM000666.1:g.187131743C>G GRCh37
NC_000004.10:g.187368737C>G NCBI36
NG_007965.1:g.24070C>G
NG_012095.2:g.6611C>G

Transcript Alleles

HGVS Amino-acid Change
NM_207352.4:c.1526C>G (CYP4V2) MANE Select NP_997235.3:p.Pro509Arg
ENST00000378802.5:c.1526C>G (CYP4V2) MANE Select ENSP00000368079.4:p.Pro509Arg
NM_207352.3:c.1526C>G (CYP4V2) NP_997235.3:p.Pro509Arg
ENST00000378802.4:c.1526C>G (CYP4V2) ENSP00000368079.4:p.Pro509Arg
ENST00000502665.1:n.761C>G (CYP4V2)
ENST00000507209.5:n.6224C>G (CYP4V2)
ENST00000511608.5:c.201+1317C>G (KLKB1)
ENST00000513354.5:n.616C>G (CYP4V2)
XM_005262935.2:c.1523C>G (CYP4V2) XP_005262992.1:p.Pro508Arg
XM_005262935.4:c.1523C>G (CYP4V2) XP_005262992.1:p.Pro508Arg
XM_006714184.2:c.1130C>G (CYP4V2) XP_006714247.1:p.Pro377Arg
XM_017008037.1:c.1130C>G (CYP4V2) XP_016863526.1:p.Pro377Arg