Canonical Allele Identifier: CA10617514
Gene: CYP4V2 HGNC NCBI
KLKB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 348323
dbSNP Id: rs770372165

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.186211356C>T , CM000666.2:g.186211356C>T GRCh38
NC_000004.11:g.187132510C>T , CM000666.1:g.187132510C>T GRCh37
NC_000004.10:g.187369504C>T NCBI36
NG_007965.1:g.24837C>T
NG_012095.2:g.7378C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000378802.5:c.*715C>T (CYP4V2) MANE Select ENSP00000368079.4:p.=
ENST00000502665.1:n.1528C>T
ENST00000507209.5:n.6991C>T
ENST00000511608.5:n.201+2084C>T
NM_207352.3:c.*715C>T (CYP4V2) NP_997235.3:p.=
XM_005262935.2:c.*715C>T (CYP4V2) XP_005262992.1:p.=
XM_006714184.2:c.*715C>T (CYP4V2) XP_006714247.1:p.=
XM_011531931.1:c.-3353C>T (KLKB1) XP_011530233.1:p.=
XM_011531932.1:c.-3603C>T (KLKB1) XP_011530234.1:p.=
XM_011531933.1:c.-3417C>T (KLKB1) XP_011530235.1:p.=
XM_005262935.4:c.*715C>T (CYP4V2) XP_005262992.1:p.=
XM_017008037.1:c.*715C>T (CYP4V2) XP_016863526.1:p.=
NM_207352.4:c.*715C>T (CYP4V2) MANE Select NP_997235.3:p.=