Canonical Allele Identifier: CA358950604
Gene: CYP4V2 HGNC NCBI
KLKB1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.186209215C>G , CM000666.2:g.186209215C>G GRCh38
NC_000004.11:g.187130369C>G , CM000666.1:g.187130369C>G GRCh37
NC_000004.10:g.187367363C>G NCBI36
NG_007965.1:g.22696C>G
NG_012095.2:g.5237C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000378802.5:c.1348C>G (CYP4V2) MANE Select ENSP00000368079.4:p.Gln450Glu
ENST00000378802.4:c.1348C>G (CYP4V2) ENSP00000368079.4:p.Gln450Glu
ENST00000502665.1:n.583C>G (CYP4V2)
ENST00000507209.5:n.6046C>G (CYP4V2)
ENST00000511608.5:c.144C>G (KLKB1)
ENST00000513354.5:n.438C>G (CYP4V2)
NM_207352.3:c.1348C>G (CYP4V2) NP_997235.3:p.Gln450Glu
XM_005262935.2:c.1345C>G (CYP4V2) XP_005262992.1:p.Gln449Glu
XM_006714184.2:c.952C>G (CYP4V2) XP_006714247.1:p.Gln318Glu
XM_005262935.4:c.1345C>G (CYP4V2) XP_005262992.1:p.Gln449Glu
XM_017008037.1:c.952C>G (CYP4V2) XP_016863526.1:p.Gln318Glu
NM_207352.4:c.1348C>G (CYP4V2) MANE Select NP_997235.3:p.Gln450Glu