Canonical Allele Identifier: CA2672899136
Gene: CYP4V2 HGNC NCBI
KLKB1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.186211445C>A , CM000666.2:g.186211445C>A GRCh38
NC_000004.11:g.187132599C>A , CM000666.1:g.187132599C>A GRCh37
NC_000004.10:g.187369593C>A NCBI36
NG_007965.1:g.24926C>A
NG_012095.2:g.7467C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000378802.5:c.*804C>A (CYP4V2) MANE Select ENSP00000368079.4:n.*804C>A
ENST00000502665.1:n.1617C>A (CYP4V2)
ENST00000507209.5:n.7080C>A (CYP4V2)
ENST00000511608.5:c.201+2173C>A (KLKB1)
NM_207352.3:c.*804C>A (CYP4V2) NP_997235.3:n.*804C>A
XM_005262935.2:c.*804C>A (CYP4V2) XP_005262992.1:n.*804C>A
XM_006714184.2:c.*804C>A (CYP4V2) XP_006714247.1:n.*804C>A
XM_011531931.1:c.-3264C>A (KLKB1) XP_011530233.1:n.-3264C>A
XM_011531932.1:c.-3514C>A (KLKB1) XP_011530234.1:n.-3514C>A
XM_011531933.1:c.-3328C>A (KLKB1) XP_011530235.1:n.-3328C>A
XM_005262935.4:c.*804C>A (CYP4V2) XP_005262992.1:n.*804C>A
XM_017008037.1:c.*804C>A (CYP4V2) XP_016863526.1:n.*804C>A
NM_207352.4:c.*804C>A (CYP4V2) MANE Select NP_997235.3:n.*804C>A