Canonical Allele Identifier: CA1519891410
Gene: CYP4V2 HGNC NCBI
KLKB1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.186209107C= , CM000666.2:g.186209107C= GRCh38
NC_000004.11:g.187130261C= , CM000666.1:g.187130261C= GRCh37
NC_000004.10:g.187367255C= NCBI36
NG_007965.1:g.22588C=
NG_012095.2:g.5129C=

Transcript Alleles

HGVS Amino-acid change
ENST00000378802.5:c.1240C= (CYP4V2) MANE Select ENSP00000368079.4:p.Leu414=
ENST00000378802.4:c.1240C= (CYP4V2) ENSP00000368079.4:p.Leu414=
ENST00000502665.1:n.475C= (CYP4V2)
ENST00000507209.5:n.5938C= (CYP4V2)
ENST00000511608.5:c.36C= (KLKB1)
ENST00000513354.5:n.330C= (CYP4V2)
NM_207352.3:c.1240C= (CYP4V2) NP_997235.3:p.Leu414=
XM_005262935.2:c.1237C= (CYP4V2) XP_005262992.1:p.Leu413=
XM_006714184.2:c.844C= (CYP4V2) XP_006714247.1:p.Leu282=
XM_005262935.4:c.1237C= (CYP4V2) XP_005262992.1:p.Leu413=
XM_017008037.1:c.844C= (CYP4V2) XP_016863526.1:p.Leu282=
NM_207352.4:c.1240C= (CYP4V2) MANE Select NP_997235.3:p.Leu414=