Canonical Allele Identifier: CA1519891347
Gene: CYP4V2 HGNC NCBI
KLKB1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.186208996G= , CM000666.2:g.186208996G= GRCh38
NC_000004.11:g.187130150G= , CM000666.1:g.187130150G= GRCh37
NC_000004.10:g.187367144G= NCBI36
NG_007965.1:g.22477G=
NG_012095.2:g.5018G=

Transcript Alleles

HGVS Amino-acid change
ENST00000378802.5:c.1222G= (CYP4V2) MANE Select ENSP00000368079.4:p.Val408=
ENST00000378802.4:c.1222G= (CYP4V2) ENSP00000368079.4:p.Val408=
ENST00000502665.1:n.457G= (CYP4V2)
ENST00000507209.5:n.5920G= (CYP4V2)
ENST00000511608.5:c.18G= (KLKB1)
ENST00000513354.5:n.312G= (CYP4V2)
NM_207352.3:c.1222G= (CYP4V2) NP_997235.3:p.Val408=
XM_005262935.2:c.1222G= (CYP4V2) XP_005262992.1:p.Val408=
XM_006714184.2:c.826G= (CYP4V2) XP_006714247.1:p.Val276=
XM_005262935.4:c.1222G= (CYP4V2) XP_005262992.1:p.Val408=
XM_017008037.1:c.826G= (CYP4V2) XP_016863526.1:p.Val276=
NM_207352.4:c.1222G= (CYP4V2) MANE Select NP_997235.3:p.Val408=