Canonical Allele Identifier: CA112138895
Gene: CYP4V2 HGNC NCBI
KLKB1 HGNC NCBI

Linked Data

dbSNP Id: rs984147548

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.186212594A>G , CM000666.2:g.186212594A>G GRCh38
NC_000004.11:g.187133748A>G , CM000666.1:g.187133748A>G GRCh37
NC_000004.10:g.187370742A>G NCBI36
NG_007965.1:g.26075A>G
NG_012095.2:g.8616A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000378802.5:c.*1953A>G (CYP4V2) MANE Select ENSP00000368079.4:n.*1953A>G
ENST00000502665.1:n.2766A>G (CYP4V2)
ENST00000507209.5:n.8229A>G (CYP4V2)
ENST00000511608.5:c.201+3322A>G (KLKB1)
NM_207352.3:c.*1953A>G (CYP4V2) NP_997235.3:n.*1953A>G
XM_005262935.2:c.*1953A>G (CYP4V2) XP_005262992.1:n.*1953A>G
XM_006714184.2:c.*1953A>G (CYP4V2) XP_006714247.1:n.*1953A>G
XM_011531931.1:c.-2115A>G (KLKB1) XP_011530233.1:n.-2115A>G
XM_011531932.1:c.-2365A>G (KLKB1) XP_011530234.1:n.-2365A>G
XM_011531933.1:c.-2179A>G (KLKB1) XP_011530235.1:n.-2179A>G
XM_005262935.4:c.*1953A>G (CYP4V2) XP_005262992.1:n.*1953A>G
XM_017008037.1:c.*1953A>G (CYP4V2) XP_016863526.1:n.*1953A>G
NM_207352.4:c.*1953A>G (CYP4V2) MANE Select NP_997235.3:n.*1953A>G