Canonical Allele Identifier: CA1519893737
Gene: CYP4V2 HGNC NCBI
KLKB1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.186212670C= , CM000666.2:g.186212670C= GRCh38
NC_000004.11:g.187133824C= , CM000666.1:g.187133824C= GRCh37
NC_000004.10:g.187370818C= NCBI36
NG_007965.1:g.26151C=
NG_012095.2:g.8692C=

Transcript Alleles

HGVS Amino-acid change
ENST00000378802.5:c.*2029C= (CYP4V2) MANE Select ENSP00000368079.4:n.*2029C=
ENST00000502665.1:n.2842C= (CYP4V2)
ENST00000507209.5:n.8305C= (CYP4V2)
ENST00000511608.5:c.201+3398C= (KLKB1)
NM_207352.3:c.*2029C= (CYP4V2) NP_997235.3:n.*2029C=
XM_005262935.2:c.*2029C= (CYP4V2) XP_005262992.1:n.*2029C=
XM_006714184.2:c.*2029C= (CYP4V2) XP_006714247.1:n.*2029C=
XM_011531931.1:c.-2039C= (KLKB1) XP_011530233.1:n.-2039C=
XM_011531932.1:c.-2289C= (KLKB1) XP_011530234.1:n.-2289C=
XM_011531933.1:c.-2103C= (KLKB1) XP_011530235.1:n.-2103C=
XM_005262935.4:c.*2029C= (CYP4V2) XP_005262992.1:n.*2029C=
XM_017008037.1:c.*2029C= (CYP4V2) XP_016863526.1:n.*2029C=
NM_207352.4:c.*2029C= (CYP4V2) MANE Select NP_997235.3:n.*2029C=