Canonical Allele Identifier: CA3162897
Gene: CYP4V2 HGNC NCBI
KLKB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 954493
dbSNP Id: rs140450256

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.186210636C>T , CM000666.2:g.186210636C>T GRCh38
NC_000004.11:g.187131790C>T , CM000666.1:g.187131790C>T GRCh37
NC_000004.10:g.187368784C>T NCBI36
NG_007965.1:g.24117C>T
NG_012095.2:g.6658C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000378802.5:c.1573C>T (CYP4V2) MANE Select ENSP00000368079.4:p.Arg525Cys
ENST00000378802.4:c.1573C>T (CYP4V2) ENSP00000368079.4:p.Arg525Cys
ENST00000502665.1:n.808C>T (CYP4V2)
ENST00000507209.5:n.6271C>T (CYP4V2)
ENST00000511608.5:c.201+1364C>T (KLKB1)
ENST00000513354.5:n.663C>T (CYP4V2)
NM_207352.3:c.1573C>T (CYP4V2) NP_997235.3:p.Arg525Cys
XM_005262935.2:c.1570C>T (CYP4V2) XP_005262992.1:p.Arg524Cys
XM_006714184.2:c.1177C>T (CYP4V2) XP_006714247.1:p.Arg393Cys
XM_005262935.4:c.1570C>T (CYP4V2) XP_005262992.1:p.Arg524Cys
XM_017008037.1:c.1177C>T (CYP4V2) XP_016863526.1:p.Arg393Cys
NM_207352.4:c.1573C>T (CYP4V2) MANE Select NP_997235.3:p.Arg525Cys