Canonical Allele Identifier: CA1519891346
Gene: CYP4V2 HGNC NCBI
KLKB1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.186208991G= , CM000666.2:g.186208991G= GRCh38
NC_000004.11:g.187130145G= , CM000666.1:g.187130145G= GRCh37
NC_000004.10:g.187367139G= NCBI36
NG_007965.1:g.22472G=
NG_012095.2:g.5013G=

Transcript Alleles

HGVS Amino-acid change
ENST00000378802.5:c.1217G= (CYP4V2) MANE Select ENSP00000368079.4:p.Cys406=
ENST00000378802.4:c.1217G= (CYP4V2) ENSP00000368079.4:p.Cys406=
ENST00000502665.1:n.452G= (CYP4V2)
ENST00000507209.5:n.5915G= (CYP4V2)
ENST00000511608.5:c.13G= (KLKB1)
ENST00000513354.5:n.307G= (CYP4V2)
NM_207352.3:c.1217G= (CYP4V2) NP_997235.3:p.Cys406=
XM_005262935.2:c.1217G= (CYP4V2) XP_005262992.1:p.Cys406=
XM_006714184.2:c.821G= (CYP4V2) XP_006714247.1:p.Cys274=
XM_005262935.4:c.1217G= (CYP4V2) XP_005262992.1:p.Cys406=
XM_017008037.1:c.821G= (CYP4V2) XP_016863526.1:p.Cys274=
NM_207352.4:c.1217G= (CYP4V2) MANE Select NP_997235.3:p.Cys406=