Canonical Allele Identifier: CA1519893785
Gene: CYP4V2 HGNC NCBI
KLKB1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.186212720G= , CM000666.2:g.186212720G= GRCh38
NC_000004.11:g.187133874G= , CM000666.1:g.187133874G= GRCh37
NC_000004.10:g.187370868G= NCBI36
NG_007965.1:g.26201G=
NG_012095.2:g.8742G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000378802.5:c.*2079G= (CYP4V2) MANE Select ENSP00000368079.4:n.*2079G=
ENST00000502665.1:n.2892G= (CYP4V2)
ENST00000507209.5:n.8355G= (CYP4V2)
ENST00000511608.5:c.201+3448G= (KLKB1)
NM_207352.3:c.*2079G= (CYP4V2) NP_997235.3:n.*2079G=
XM_005262935.2:c.*2079G= (CYP4V2) XP_005262992.1:n.*2079G=
XM_006714184.2:c.*2079G= (CYP4V2) XP_006714247.1:n.*2079G=
XM_011531931.1:c.-1989G= (KLKB1) XP_011530233.1:n.-1989G=
XM_011531932.1:c.-2239G= (KLKB1) XP_011530234.1:n.-2239G=
XM_011531933.1:c.-2053G= (KLKB1) XP_011530235.1:n.-2053G=
XM_005262935.4:c.*2079G= (CYP4V2) XP_005262992.1:n.*2079G=
XM_017008037.1:c.*2079G= (CYP4V2) XP_016863526.1:n.*2079G=
NM_207352.4:c.*2079G= (CYP4V2) MANE Select NP_997235.3:n.*2079G=