Canonical Allele Identifier: CA1519892117
Gene: CYP4V2 HGNC NCBI
KLKB1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.186210630G= , CM000666.2:g.186210630G= GRCh38
NC_000004.11:g.187131784G= , CM000666.1:g.187131784G= GRCh37
NC_000004.10:g.187368778G= NCBI36
NG_007965.1:g.24111G=
NG_012095.2:g.6652G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000378802.5:c.1567G= (CYP4V2) MANE Select ENSP00000368079.4:p.Asp523=
ENST00000378802.4:c.1567G= (CYP4V2) ENSP00000368079.4:p.Asp523=
ENST00000502665.1:n.802G= (CYP4V2)
ENST00000507209.5:n.6265G= (CYP4V2)
ENST00000511608.5:c.201+1358G= (KLKB1)
ENST00000513354.5:n.657G= (CYP4V2)
NM_207352.3:c.1567G= (CYP4V2) NP_997235.3:p.Asp523=
XM_005262935.2:c.1564G= (CYP4V2) XP_005262992.1:p.Asp522=
XM_006714184.2:c.1171G= (CYP4V2) XP_006714247.1:p.Asp391=
XM_005262935.4:c.1564G= (CYP4V2) XP_005262992.1:p.Asp522=
XM_017008037.1:c.1171G= (CYP4V2) XP_016863526.1:p.Asp391=
NM_207352.4:c.1567G= (CYP4V2) MANE Select NP_997235.3:p.Asp523=