Canonical Allele Identifier: CA1519892462
Gene: CYP4V2 HGNC NCBI
KLKB1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.186211307T= , CM000666.2:g.186211307T= GRCh38
NC_000004.11:g.187132461T= , CM000666.1:g.187132461T= GRCh37
NC_000004.10:g.187369455T= NCBI36
NG_007965.1:g.24788T=
NG_012095.2:g.7329T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000378802.5:c.*666T= (CYP4V2) MANE Select ENSP00000368079.4:n.*666T=
ENST00000502665.1:n.1479T= (CYP4V2)
ENST00000507209.5:n.6942T= (CYP4V2)
ENST00000511608.5:c.201+2035T= (KLKB1)
NM_207352.3:c.*666T= (CYP4V2) NP_997235.3:n.*666T=
XM_005262935.2:c.*666T= (CYP4V2) XP_005262992.1:n.*666T=
XM_006714184.2:c.*666T= (CYP4V2) XP_006714247.1:n.*666T=
XM_011531931.1:c.-3402T= (KLKB1) XP_011530233.1:n.-3402T=
XM_011531932.1:c.-3652T= (KLKB1) XP_011530234.1:n.-3652T=
XM_011531933.1:c.-3466T= (KLKB1) XP_011530235.1:n.-3466T=
XM_005262935.4:c.*666T= (CYP4V2) XP_005262992.1:n.*666T=
XM_017008037.1:c.*666T= (CYP4V2) XP_016863526.1:n.*666T=
NM_207352.4:c.*666T= (CYP4V2) MANE Select NP_997235.3:n.*666T=