Canonical Allele Identifier: CA1519893834
Gene: CYP4V2 HGNC NCBI
KLKB1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.186212780G= , CM000666.2:g.186212780G= GRCh38
NC_000004.11:g.187133934G= , CM000666.1:g.187133934G= GRCh37
NC_000004.10:g.187370928G= NCBI36
NG_007965.1:g.26261G=
NG_012095.2:g.8802G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000378802.5:c.*2139G= (CYP4V2) MANE Select ENSP00000368079.4:n.*2139G=
ENST00000502665.1:n.2952G= (CYP4V2)
ENST00000507209.5:n.8415G= (CYP4V2)
ENST00000511608.5:c.201+3508G= (KLKB1)
NM_207352.3:c.*2139G= (CYP4V2) NP_997235.3:n.*2139G=
XM_005262935.2:c.*2139G= (CYP4V2) XP_005262992.1:n.*2139G=
XM_006714184.2:c.*2139G= (CYP4V2) XP_006714247.1:n.*2139G=
XM_011531931.1:c.-1929G= (KLKB1) XP_011530233.1:n.-1929G=
XM_011531932.1:c.-2179G= (KLKB1) XP_011530234.1:n.-2179G=
XM_011531933.1:c.-1993G= (KLKB1) XP_011530235.1:n.-1993G=
XM_005262935.4:c.*2139G= (CYP4V2) XP_005262992.1:n.*2139G=
XM_017008037.1:c.*2139G= (CYP4V2) XP_016863526.1:n.*2139G=
NM_207352.4:c.*2139G= (CYP4V2) MANE Select NP_997235.3:n.*2139G=