Canonical Allele Identifier: CA442641238
Gene: CYP4V2 HGNC NCBI
KLKB1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr4:g.187131741T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.186210587T>C , CM000666.2:g.186210587T>C GRCh38
NC_000004.11:g.187131741T>C , CM000666.1:g.187131741T>C GRCh37
NC_000004.10:g.187368735T>C NCBI36
NG_007965.1:g.24068T>C
NG_012095.2:g.6609T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000378802.5:c.1524T>C (CYP4V2) MANE Select ENSP00000368079.4:p.Arg508=
ENST00000378802.4:c.1524T>C (CYP4V2) ENSP00000368079.4:p.Arg508=
ENST00000502665.1:n.759T>C (CYP4V2)
ENST00000507209.5:n.6222T>C (CYP4V2)
ENST00000511608.5:c.201+1315T>C (KLKB1)
ENST00000513354.5:n.614T>C (CYP4V2)
NM_207352.3:c.1524T>C (CYP4V2) NP_997235.3:p.Arg508=
XM_005262935.2:c.1521T>C (CYP4V2) XP_005262992.1:p.Arg507=
XM_006714184.2:c.1128T>C (CYP4V2) XP_006714247.1:p.Arg376=
XM_005262935.4:c.1521T>C (CYP4V2) XP_005262992.1:p.Arg507=
XM_017008037.1:c.1128T>C (CYP4V2) XP_016863526.1:p.Arg376=
NM_207352.4:c.1524T>C (CYP4V2) MANE Select NP_997235.3:p.Arg508=