Canonical Allele Identifier: CA358950513
Gene: CYP4V2 HGNC NCBI
KLKB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2040921
ClinVar RCV Id: RCV002890853

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.186209174C>G , CM000666.2:g.186209174C>G GRCh38
NC_000004.11:g.187130328C>G , CM000666.1:g.187130328C>G GRCh37
NC_000004.10:g.187367322C>G NCBI36
NG_007965.1:g.22655C>G
NG_012095.2:g.5196C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000378802.5:c.1307C>G (CYP4V2) MANE Select ENSP00000368079.4:p.Pro436Arg
ENST00000378802.4:c.1307C>G (CYP4V2) ENSP00000368079.4:p.Pro436Arg
ENST00000502665.1:n.542C>G (CYP4V2)
ENST00000507209.5:n.6005C>G (CYP4V2)
ENST00000511608.5:c.103C>G (KLKB1)
ENST00000513354.5:n.397C>G (CYP4V2)
NM_207352.3:c.1307C>G (CYP4V2) NP_997235.3:p.Pro436Arg
XM_005262935.2:c.1304C>G (CYP4V2) XP_005262992.1:p.Pro435Arg
XM_006714184.2:c.911C>G (CYP4V2) XP_006714247.1:p.Pro304Arg
XM_005262935.4:c.1304C>G (CYP4V2) XP_005262992.1:p.Pro435Arg
XM_017008037.1:c.911C>G (CYP4V2) XP_016863526.1:p.Pro304Arg
NM_207352.4:c.1307C>G (CYP4V2) MANE Select NP_997235.3:p.Pro436Arg