Canonical Allele Identifier: CA2523996520
Gene: CYP4V2 HGNC NCBI
KLKB1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.186212651G>T , CM000666.2:g.186212651G>T GRCh38
NC_000004.11:g.187133805G>T , CM000666.1:g.187133805G>T GRCh37
NC_000004.10:g.187370799G>T NCBI36
NG_007965.1:g.26132G>T
NG_012095.2:g.8673G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000378802.5:c.*2010G>T (CYP4V2) MANE Select ENSP00000368079.4:n.*2010G>T
ENST00000502665.1:n.2823G>T (CYP4V2)
ENST00000507209.5:n.8286G>T (CYP4V2)
ENST00000511608.5:c.201+3379G>T (KLKB1)
NM_207352.3:c.*2010G>T (CYP4V2) NP_997235.3:n.*2010G>T
XM_005262935.2:c.*2010G>T (CYP4V2) XP_005262992.1:n.*2010G>T
XM_006714184.2:c.*2010G>T (CYP4V2) XP_006714247.1:n.*2010G>T
XM_011531931.1:c.-2058G>T (KLKB1) XP_011530233.1:n.-2058G>T
XM_011531932.1:c.-2308G>T (KLKB1) XP_011530234.1:n.-2308G>T
XM_011531933.1:c.-2122G>T (KLKB1) XP_011530235.1:n.-2122G>T
XM_005262935.4:c.*2010G>T (CYP4V2) XP_005262992.1:n.*2010G>T
XM_017008037.1:c.*2010G>T (CYP4V2) XP_016863526.1:n.*2010G>T
NM_207352.4:c.*2010G>T (CYP4V2) MANE Select NP_997235.3:n.*2010G>T