Canonical Allele Identifier: CA1519893865
Gene: CYP4V2 HGNC NCBI
KLKB1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.186212803C= , CM000666.2:g.186212803C= GRCh38
NC_000004.11:g.187133957C= , CM000666.1:g.187133957C= GRCh37
NC_000004.10:g.187370951C= NCBI36
NG_007965.1:g.26284C=
NG_012095.2:g.8825C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000378802.5:c.*2162C= (CYP4V2) MANE Select ENSP00000368079.4:n.*2162C=
ENST00000502665.1:n.2975C= (CYP4V2)
ENST00000507209.5:n.8438C= (CYP4V2)
ENST00000511608.5:c.201+3531C= (KLKB1)
NM_207352.3:c.*2162C= (CYP4V2) NP_997235.3:n.*2162C=
XM_005262935.2:c.*2162C= (CYP4V2) XP_005262992.1:n.*2162C=
XM_006714184.2:c.*2162C= (CYP4V2) XP_006714247.1:n.*2162C=
XM_011531931.1:c.-1906C= (KLKB1) XP_011530233.1:n.-1906C=
XM_011531932.1:c.-2156C= (KLKB1) XP_011530234.1:n.-2156C=
XM_011531933.1:c.-1970C= (KLKB1) XP_011530235.1:n.-1970C=
XM_005262935.4:c.*2162C= (CYP4V2) XP_005262992.1:n.*2162C=
XM_017008037.1:c.*2162C= (CYP4V2) XP_016863526.1:n.*2162C=
NM_207352.4:c.*2162C= (CYP4V2) MANE Select NP_997235.3:n.*2162C=