Canonical Allele Identifier: CA358950344
Gene: CYP4V2 HGNC NCBI
KLKB1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.186209093C>G , CM000666.2:g.186209093C>G GRCh38
NC_000004.11:g.187130247C>G , CM000666.1:g.187130247C>G GRCh37
NC_000004.10:g.187367241C>G NCBI36
NG_007965.1:g.22574C>G
NG_012095.2:g.5115C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000378802.5:c.1226C>G (CYP4V2) MANE Select ENSP00000368079.4:p.Ala409Gly
ENST00000378802.4:c.1226C>G (CYP4V2) ENSP00000368079.4:p.Ala409Gly
ENST00000502665.1:n.461C>G (CYP4V2)
ENST00000507209.5:n.5924C>G (CYP4V2)
ENST00000511608.5:c.22C>G (KLKB1)
ENST00000513354.5:n.316C>G (CYP4V2)
NM_207352.3:c.1226C>G (CYP4V2) NP_997235.3:p.Ala409Gly
XM_005262935.2:c.1226-3C>G (CYP4V2) XP_005262992.1:n.1226-3C>G
XM_006714184.2:c.830C>G (CYP4V2) XP_006714247.1:p.Ala277Gly
XM_005262935.4:c.1226-3C>G (CYP4V2) XP_005262992.1:n.1226-3C>G
XM_017008037.1:c.830C>G (CYP4V2) XP_016863526.1:p.Ala277Gly
NM_207352.4:c.1226C>G (CYP4V2) MANE Select NP_997235.3:p.Ala409Gly