Canonical Allele Identifier: CA1519891466
Gene: CYP4V2 HGNC NCBI
KLKB1 HGNC NCBI

Linked Data

dbSNP Id: rs746220304

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.186209205dup , CM000666.2:g.186209205dup GRCh38
NC_000004.11:g.187130359dup , CM000666.1:g.187130359dup GRCh37
NC_000004.10:g.187367353dup NCBI36
NG_007965.1:g.22686dup
NG_012095.2:g.5227dup

Transcript Alleles

HGVS Amino-acid change
ENST00000378802.5:c.1338dup (CYP4V2) MANE Select ENSP00000368079.4:p.Glu447ArgfsTer?
ENST00000378802.4:c.1338dup (CYP4V2) ENSP00000368079.4:p.Glu447ArgfsTer?
ENST00000502665.1:n.573dup (CYP4V2)
ENST00000507209.5:n.6036dup (CYP4V2)
ENST00000511608.5:c.134dup (KLKB1)
ENST00000513354.5:n.428dup (CYP4V2)
NM_207352.3:c.1338dup (CYP4V2) NP_997235.3:p.Glu447ArgfsTer?
XM_005262935.2:c.1335dup (CYP4V2) XP_005262992.1:p.Glu446ArgfsTer?
XM_006714184.2:c.942dup (CYP4V2) XP_006714247.1:p.Glu315ArgfsTer?
XM_005262935.4:c.1335dup (CYP4V2) XP_005262992.1:p.Glu446ArgfsTer?
XM_017008037.1:c.942dup (CYP4V2) XP_016863526.1:p.Glu315ArgfsTer?
NM_207352.4:c.1338dup (CYP4V2) MANE Select NP_997235.3:p.Glu447ArgfsTer?