Canonical Allele Identifier: CA1519893768
Gene: CYP4V2 HGNC NCBI
KLKB1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.186212712G= , CM000666.2:g.186212712G= GRCh38
NC_000004.11:g.187133866G= , CM000666.1:g.187133866G= GRCh37
NC_000004.10:g.187370860G= NCBI36
NG_007965.1:g.26193G=
NG_012095.2:g.8734G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000378802.5:c.*2071G= (CYP4V2) MANE Select ENSP00000368079.4:n.*2071G=
ENST00000502665.1:n.2884G= (CYP4V2)
ENST00000507209.5:n.8347G= (CYP4V2)
ENST00000511608.5:c.201+3440G= (KLKB1)
NM_207352.3:c.*2071G= (CYP4V2) NP_997235.3:n.*2071G=
XM_005262935.2:c.*2071G= (CYP4V2) XP_005262992.1:n.*2071G=
XM_006714184.2:c.*2071G= (CYP4V2) XP_006714247.1:n.*2071G=
XM_011531931.1:c.-1997G= (KLKB1) XP_011530233.1:n.-1997G=
XM_011531932.1:c.-2247G= (KLKB1) XP_011530234.1:n.-2247G=
XM_011531933.1:c.-2061G= (KLKB1) XP_011530235.1:n.-2061G=
XM_005262935.4:c.*2071G= (CYP4V2) XP_005262992.1:n.*2071G=
XM_017008037.1:c.*2071G= (CYP4V2) XP_016863526.1:n.*2071G=
NM_207352.4:c.*2071G= (CYP4V2) MANE Select NP_997235.3:n.*2071G=