Canonical Allele Identifier: CA442882550
Gene: CYP4V2 HGNC NCBI
KLKB1 HGNC NCBI

Linked Data

dbSNP Id: rs1736629822
MyVariant Identifiers: chr4:g.187130320C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.186209166C>T , CM000666.2:g.186209166C>T GRCh38
NC_000004.11:g.187130320C>T , CM000666.1:g.187130320C>T GRCh37
NC_000004.10:g.187367314C>T NCBI36
NG_007965.1:g.22647C>T
NG_012095.2:g.5188C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000378802.5:c.1299C>T (CYP4V2) MANE Select ENSP00000368079.4:p.Phe433=
ENST00000378802.4:c.1299C>T (CYP4V2) ENSP00000368079.4:p.Phe433=
ENST00000502665.1:n.534C>T (CYP4V2)
ENST00000507209.5:n.5997C>T (CYP4V2)
ENST00000511608.5:c.95C>T (KLKB1)
ENST00000513354.5:n.389C>T (CYP4V2)
NM_207352.3:c.1299C>T (CYP4V2) NP_997235.3:p.Phe433=
XM_005262935.2:c.1296C>T (CYP4V2) XP_005262992.1:p.Phe432=
XM_006714184.2:c.903C>T (CYP4V2) XP_006714247.1:p.Phe301=
XM_005262935.4:c.1296C>T (CYP4V2) XP_005262992.1:p.Phe432=
XM_017008037.1:c.903C>T (CYP4V2) XP_016863526.1:p.Phe301=
NM_207352.4:c.1299C>T (CYP4V2) MANE Select NP_997235.3:p.Phe433=