Canonical Allele Identifier: CA358950710
Gene: CYP4V2 HGNC NCBI
KLKB1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.186209268T>A , CM000666.2:g.186209268T>A GRCh38
NC_000004.11:g.187130422T>A , CM000666.1:g.187130422T>A GRCh37
NC_000004.10:g.187367416T>A NCBI36
NG_007965.1:g.22749T>A
NG_012095.2:g.5290T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000378802.5:c.1401T>A (CYP4V2) MANE Select ENSP00000368079.4:p.Cys467Ter
ENST00000378802.4:c.1401T>A (CYP4V2) ENSP00000368079.4:p.Cys467Ter
ENST00000502665.1:n.636T>A (CYP4V2)
ENST00000507209.5:n.6099T>A (CYP4V2)
ENST00000511608.5:c.197T>A (KLKB1)
ENST00000513354.5:n.491T>A (CYP4V2)
NM_207352.3:c.1401T>A (CYP4V2) NP_997235.3:p.Cys467Ter
XM_005262935.2:c.1398T>A (CYP4V2) XP_005262992.1:p.Cys466Ter
XM_006714184.2:c.1005T>A (CYP4V2) XP_006714247.1:p.Cys335Ter
XM_005262935.4:c.1398T>A (CYP4V2) XP_005262992.1:p.Cys466Ter
XM_017008037.1:c.1005T>A (CYP4V2) XP_016863526.1:p.Cys335Ter
NM_207352.4:c.1401T>A (CYP4V2) MANE Select NP_997235.3:p.Cys467Ter