Canonical Allele Identifier: CA442882399
Gene: CYP4V2 HGNC NCBI
KLKB1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr4:g.187130260T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.186209106T>C , CM000666.2:g.186209106T>C GRCh38
NC_000004.11:g.187130260T>C , CM000666.1:g.187130260T>C GRCh37
NC_000004.10:g.187367254T>C NCBI36
NG_007965.1:g.22587T>C
NG_012095.2:g.5128T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000378802.5:c.1239T>C (CYP4V2) MANE Select ENSP00000368079.4:p.Val413=
ENST00000378802.4:c.1239T>C (CYP4V2) ENSP00000368079.4:p.Val413=
ENST00000502665.1:n.474T>C (CYP4V2)
ENST00000507209.5:n.5937T>C (CYP4V2)
ENST00000511608.5:c.35T>C (KLKB1)
ENST00000513354.5:n.329T>C (CYP4V2)
NM_207352.3:c.1239T>C (CYP4V2) NP_997235.3:p.Val413=
XM_005262935.2:c.1236T>C (CYP4V2) XP_005262992.1:p.Val412=
XM_006714184.2:c.843T>C (CYP4V2) XP_006714247.1:p.Val281=
XM_005262935.4:c.1236T>C (CYP4V2) XP_005262992.1:p.Val412=
XM_017008037.1:c.843T>C (CYP4V2) XP_016863526.1:p.Val281=
NM_207352.4:c.1239T>C (CYP4V2) MANE Select NP_997235.3:p.Val413=