Canonical Allele Identifier: CA10618458
Gene: CYP4V2 HGNC NCBI
KLKB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 348360
dbSNP Id: rs886059295

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.186212658T>C , CM000666.2:g.186212658T>C GRCh38
NC_000004.11:g.187133812T>C , CM000666.1:g.187133812T>C GRCh37
NC_000004.10:g.187370806T>C NCBI36
NG_007965.1:g.26139T>C
NG_012095.2:g.8680T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000378802.5:c.*2017T>C (CYP4V2) MANE Select ENSP00000368079.4:n.*2017T>C
ENST00000502665.1:n.2830T>C (CYP4V2)
ENST00000507209.5:n.8293T>C (CYP4V2)
ENST00000511608.5:c.201+3386T>C (KLKB1)
NM_207352.3:c.*2017T>C (CYP4V2) NP_997235.3:n.*2017T>C
XM_005262935.2:c.*2017T>C (CYP4V2) XP_005262992.1:n.*2017T>C
XM_006714184.2:c.*2017T>C (CYP4V2) XP_006714247.1:n.*2017T>C
XM_011531931.1:c.-2051T>C (KLKB1) XP_011530233.1:n.-2051T>C
XM_011531932.1:c.-2301T>C (KLKB1) XP_011530234.1:n.-2301T>C
XM_011531933.1:c.-2115T>C (KLKB1) XP_011530235.1:n.-2115T>C
XM_005262935.4:c.*2017T>C (CYP4V2) XP_005262992.1:n.*2017T>C
XM_017008037.1:c.*2017T>C (CYP4V2) XP_016863526.1:n.*2017T>C
NM_207352.4:c.*2017T>C (CYP4V2) MANE Select NP_997235.3:n.*2017T>C