Canonical Allele Identifier: CA1519892067
Gene: CYP4V2 HGNC NCBI
KLKB1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.186210511G= , CM000666.2:g.186210511G= GRCh38
NC_000004.11:g.187131665G= , CM000666.1:g.187131665G= GRCh37
NC_000004.10:g.187368659G= NCBI36
NG_007965.1:g.23992G=
NG_012095.2:g.6533G=

Transcript Alleles

HGVS Amino-acid change
ENST00000378802.5:c.1448G= (CYP4V2) MANE Select ENSP00000368079.4:p.Cys483=
ENST00000378802.4:c.1448G= (CYP4V2) ENSP00000368079.4:p.Cys483=
ENST00000502665.1:n.683G= (CYP4V2)
ENST00000507209.5:n.6146G= (CYP4V2)
ENST00000511608.5:c.201+1239G= (KLKB1)
ENST00000513354.5:n.538G= (CYP4V2)
NM_207352.3:c.1448G= (CYP4V2) NP_997235.3:p.Cys483=
XM_005262935.2:c.1445G= (CYP4V2) XP_005262992.1:p.Cys482=
XM_006714184.2:c.1052G= (CYP4V2) XP_006714247.1:p.Cys351=
XM_005262935.4:c.1445G= (CYP4V2) XP_005262992.1:p.Cys482=
XM_017008037.1:c.1052G= (CYP4V2) XP_016863526.1:p.Cys351=
NM_207352.4:c.1448G= (CYP4V2) MANE Select NP_997235.3:p.Cys483=