Canonical Allele Identifier: CA358951377
Gene: CYP4V2 HGNC NCBI
KLKB1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.186210621A>G , CM000666.2:g.186210621A>G GRCh38
NC_000004.11:g.187131775A>G , CM000666.1:g.187131775A>G GRCh37
NC_000004.10:g.187368769A>G NCBI36
NG_007965.1:g.24102A>G
NG_012095.2:g.6643A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000378802.5:c.1558A>G (CYP4V2) MANE Select ENSP00000368079.4:p.Arg520Gly
ENST00000378802.4:c.1558A>G (CYP4V2) ENSP00000368079.4:p.Arg520Gly
ENST00000502665.1:n.793A>G (CYP4V2)
ENST00000507209.5:n.6256A>G (CYP4V2)
ENST00000511608.5:c.201+1349A>G (KLKB1)
ENST00000513354.5:n.648A>G (CYP4V2)
NM_207352.3:c.1558A>G (CYP4V2) NP_997235.3:p.Arg520Gly
XM_005262935.2:c.1555A>G (CYP4V2) XP_005262992.1:p.Arg519Gly
XM_006714184.2:c.1162A>G (CYP4V2) XP_006714247.1:p.Arg388Gly
XM_005262935.4:c.1555A>G (CYP4V2) XP_005262992.1:p.Arg519Gly
XM_017008037.1:c.1162A>G (CYP4V2) XP_016863526.1:p.Arg388Gly
NM_207352.4:c.1558A>G (CYP4V2) MANE Select NP_997235.3:p.Arg520Gly