Canonical Allele Identifier: CA358950347
Gene: CYP4V2 HGNC NCBI
KLKB1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.186209095G>T , CM000666.2:g.186209095G>T GRCh38
NC_000004.11:g.187130249G>T , CM000666.1:g.187130249G>T GRCh37
NC_000004.10:g.187367243G>T NCBI36
NG_007965.1:g.22576G>T
NG_012095.2:g.5117G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000378802.5:c.1228G>T (CYP4V2) MANE Select ENSP00000368079.4:p.Gly410Cys
ENST00000378802.4:c.1228G>T (CYP4V2) ENSP00000368079.4:p.Gly410Cys
ENST00000502665.1:n.463G>T (CYP4V2)
ENST00000507209.5:n.5926G>T (CYP4V2)
ENST00000511608.5:c.24G>T (KLKB1)
ENST00000513354.5:n.318G>T (CYP4V2)
NM_207352.3:c.1228G>T (CYP4V2) NP_997235.3:p.Gly410Cys
XM_005262935.2:c.1226-1G>T (CYP4V2) XP_005262992.1:n.1226-1G>T
XM_006714184.2:c.832G>T (CYP4V2) XP_006714247.1:p.Gly278Cys
XM_005262935.4:c.1226-1G>T (CYP4V2) XP_005262992.1:n.1226-1G>T
XM_017008037.1:c.832G>T (CYP4V2) XP_016863526.1:p.Gly278Cys
NM_207352.4:c.1228G>T (CYP4V2) MANE Select NP_997235.3:p.Gly410Cys