Canonical Allele Identifier: CA358950358
Gene: CYP4V2 HGNC NCBI
KLKB1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.186209101A>T , CM000666.2:g.186209101A>T GRCh38
NC_000004.11:g.187130255A>T , CM000666.1:g.187130255A>T GRCh37
NC_000004.10:g.187367249A>T NCBI36
NG_007965.1:g.22582A>T
NG_012095.2:g.5123A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000378802.5:c.1234A>T (CYP4V2) MANE Select ENSP00000368079.4:p.Arg412Ter
ENST00000378802.4:c.1234A>T (CYP4V2) ENSP00000368079.4:p.Arg412Ter
ENST00000502665.1:n.469A>T (CYP4V2)
ENST00000507209.5:n.5932A>T (CYP4V2)
ENST00000511608.5:c.30A>T (KLKB1)
ENST00000513354.5:n.324A>T (CYP4V2)
NM_207352.3:c.1234A>T (CYP4V2) NP_997235.3:p.Arg412Ter
XM_005262935.2:c.1231A>T (CYP4V2) XP_005262992.1:p.Arg411Ter
XM_006714184.2:c.838A>T (CYP4V2) XP_006714247.1:p.Arg280Ter
XM_005262935.4:c.1231A>T (CYP4V2) XP_005262992.1:p.Arg411Ter
XM_017008037.1:c.838A>T (CYP4V2) XP_016863526.1:p.Arg280Ter
NM_207352.4:c.1234A>T (CYP4V2) MANE Select NP_997235.3:p.Arg412Ter