Canonical Allele Identifier: CA1519892517
Gene: CYP4V2 HGNC NCBI
KLKB1 HGNC NCBI

Linked Data

dbSNP Id: rs1047700681

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.186211450A>T , CM000666.2:g.186211450A>T GRCh38
NC_000004.11:g.187132604A>T , CM000666.1:g.187132604A>T GRCh37
NC_000004.10:g.187369598A>T NCBI36
NG_007965.1:g.24931A>T
NG_012095.2:g.7472A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000378802.5:c.*809A>T (CYP4V2) MANE Select ENSP00000368079.4:n.*809A>T
ENST00000502665.1:n.1622A>T (CYP4V2)
ENST00000507209.5:n.7085A>T (CYP4V2)
ENST00000511608.5:c.201+2178A>T (KLKB1)
NM_207352.3:c.*809A>T (CYP4V2) NP_997235.3:n.*809A>T
XM_005262935.2:c.*809A>T (CYP4V2) XP_005262992.1:n.*809A>T
XM_006714184.2:c.*809A>T (CYP4V2) XP_006714247.1:n.*809A>T
XM_011531931.1:c.-3259A>T (KLKB1) XP_011530233.1:n.-3259A>T
XM_011531932.1:c.-3509A>T (KLKB1) XP_011530234.1:n.-3509A>T
XM_011531933.1:c.-3323A>T (KLKB1) XP_011530235.1:n.-3323A>T
XM_005262935.4:c.*809A>T (CYP4V2) XP_005262992.1:n.*809A>T
XM_017008037.1:c.*809A>T (CYP4V2) XP_016863526.1:n.*809A>T
NM_207352.4:c.*809A>T (CYP4V2) MANE Select NP_997235.3:n.*809A>T