Canonical Allele Identifier: CA3162840
Gene: CYP4V2 HGNC NCBI
KLKB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1008107
dbSNP Id: rs149681054

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.186209222G>A , CM000666.2:g.186209222G>A GRCh38
NC_000004.11:g.187130376G>A , CM000666.1:g.187130376G>A GRCh37
NC_000004.10:g.187367370G>A NCBI36
NG_007965.1:g.22703G>A
NG_012095.2:g.5244G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000378802.5:c.1355G>A (CYP4V2) MANE Select ENSP00000368079.4:p.Arg452His
ENST00000378802.4:c.1355G>A (CYP4V2) ENSP00000368079.4:p.Arg452His
ENST00000502665.1:n.590G>A (CYP4V2)
ENST00000507209.5:n.6053G>A (CYP4V2)
ENST00000511608.5:c.151G>A (KLKB1)
ENST00000513354.5:n.445G>A (CYP4V2)
NM_207352.3:c.1355G>A (CYP4V2) NP_997235.3:p.Arg452His
XM_005262935.2:c.1352G>A (CYP4V2) XP_005262992.1:p.Arg451His
XM_006714184.2:c.959G>A (CYP4V2) XP_006714247.1:p.Arg320His
XM_005262935.4:c.1352G>A (CYP4V2) XP_005262992.1:p.Arg451His
XM_017008037.1:c.959G>A (CYP4V2) XP_016863526.1:p.Arg320His
NM_207352.4:c.1355G>A (CYP4V2) MANE Select NP_997235.3:p.Arg452His