Canonical Allele Identifier: CA358950456
Gene: CYP4V2 HGNC NCBI
KLKB1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.186209149A>T , CM000666.2:g.186209149A>T GRCh38
NC_000004.11:g.187130303A>T , CM000666.1:g.187130303A>T GRCh37
NC_000004.10:g.187367297A>T NCBI36
NG_007965.1:g.22630A>T
NG_012095.2:g.5171A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000378802.5:c.1282A>T (CYP4V2) MANE Select ENSP00000368079.4:p.Arg428Ter
ENST00000378802.4:c.1282A>T (CYP4V2) ENSP00000368079.4:p.Arg428Ter
ENST00000502665.1:n.517A>T (CYP4V2)
ENST00000507209.5:n.5980A>T (CYP4V2)
ENST00000511608.5:c.78A>T (KLKB1)
ENST00000513354.5:n.372A>T (CYP4V2)
NM_207352.3:c.1282A>T (CYP4V2) NP_997235.3:p.Arg428Ter
XM_005262935.2:c.1279A>T (CYP4V2) XP_005262992.1:p.Arg427Ter
XM_006714184.2:c.886A>T (CYP4V2) XP_006714247.1:p.Arg296Ter
XM_005262935.4:c.1279A>T (CYP4V2) XP_005262992.1:p.Arg427Ter
XM_017008037.1:c.886A>T (CYP4V2) XP_016863526.1:p.Arg296Ter
NM_207352.4:c.1282A>T (CYP4V2) MANE Select NP_997235.3:p.Arg428Ter