Canonical Allele Identifier: CA358950507
Gene: CYP4V2 HGNC NCBI
KLKB1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.186209172C>A , CM000666.2:g.186209172C>A GRCh38
NC_000004.11:g.187130326C>A , CM000666.1:g.187130326C>A GRCh37
NC_000004.10:g.187367320C>A NCBI36
NG_007965.1:g.22653C>A
NG_012095.2:g.5194C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000378802.5:c.1305C>A (CYP4V2) MANE Select ENSP00000368079.4:p.Asn435Lys
ENST00000378802.4:c.1305C>A (CYP4V2) ENSP00000368079.4:p.Asn435Lys
ENST00000502665.1:n.540C>A (CYP4V2)
ENST00000507209.5:n.6003C>A (CYP4V2)
ENST00000511608.5:c.101C>A (KLKB1)
ENST00000513354.5:n.395C>A (CYP4V2)
NM_207352.3:c.1305C>A (CYP4V2) NP_997235.3:p.Asn435Lys
XM_005262935.2:c.1302C>A (CYP4V2) XP_005262992.1:p.Asn434Lys
XM_006714184.2:c.909C>A (CYP4V2) XP_006714247.1:p.Asn303Lys
XM_005262935.4:c.1302C>A (CYP4V2) XP_005262992.1:p.Asn434Lys
XM_017008037.1:c.909C>A (CYP4V2) XP_016863526.1:p.Asn303Lys
NM_207352.4:c.1305C>A (CYP4V2) MANE Select NP_997235.3:p.Asn435Lys