Canonical Allele Identifier: CA358950388
Gene: CYP4V2 HGNC NCBI
KLKB1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.186209117C>A , CM000666.2:g.186209117C>A GRCh38
NC_000004.11:g.187130271C>A , CM000666.1:g.187130271C>A GRCh37
NC_000004.10:g.187367265C>A NCBI36
NG_007965.1:g.22598C>A
NG_012095.2:g.5139C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000378802.5:c.1250C>A (CYP4V2) MANE Select ENSP00000368079.4:p.Thr417Asn
ENST00000378802.4:c.1250C>A (CYP4V2) ENSP00000368079.4:p.Thr417Asn
ENST00000502665.1:n.485C>A (CYP4V2)
ENST00000507209.5:n.5948C>A (CYP4V2)
ENST00000511608.5:c.46C>A (KLKB1)
ENST00000513354.5:n.340C>A (CYP4V2)
NM_207352.3:c.1250C>A (CYP4V2) NP_997235.3:p.Thr417Asn
XM_005262935.2:c.1247C>A (CYP4V2) XP_005262992.1:p.Thr416Asn
XM_006714184.2:c.854C>A (CYP4V2) XP_006714247.1:p.Thr285Asn
XM_005262935.4:c.1247C>A (CYP4V2) XP_005262992.1:p.Thr416Asn
XM_017008037.1:c.854C>A (CYP4V2) XP_016863526.1:p.Thr285Asn
NM_207352.4:c.1250C>A (CYP4V2) MANE Select NP_997235.3:p.Thr417Asn