Canonical Allele Identifier: CA358951383
Gene: CYP4V2 HGNC NCBI
KLKB1 HGNC NCBI

Linked Data

dbSNP Id: rs1736684737

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.186210622G>A , CM000666.2:g.186210622G>A GRCh38
NC_000004.11:g.187131776G>A , CM000666.1:g.187131776G>A GRCh37
NC_000004.10:g.187368770G>A NCBI36
NG_007965.1:g.24103G>A
NG_012095.2:g.6644G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000378802.5:c.1559G>A (CYP4V2) MANE Select ENSP00000368079.4:p.Arg520Lys
ENST00000378802.4:c.1559G>A (CYP4V2) ENSP00000368079.4:p.Arg520Lys
ENST00000502665.1:n.794G>A (CYP4V2)
ENST00000507209.5:n.6257G>A (CYP4V2)
ENST00000511608.5:c.201+1350G>A (KLKB1)
ENST00000513354.5:n.649G>A (CYP4V2)
NM_207352.3:c.1559G>A (CYP4V2) NP_997235.3:p.Arg520Lys
XM_005262935.2:c.1556G>A (CYP4V2) XP_005262992.1:p.Arg519Lys
XM_006714184.2:c.1163G>A (CYP4V2) XP_006714247.1:p.Arg388Lys
XM_005262935.4:c.1556G>A (CYP4V2) XP_005262992.1:p.Arg519Lys
XM_017008037.1:c.1163G>A (CYP4V2) XP_016863526.1:p.Arg388Lys
NM_207352.4:c.1559G>A (CYP4V2) MANE Select NP_997235.3:p.Arg520Lys