Canonical Allele Identifier: CA1519892747
Gene: CYP4V2 HGNC NCBI
KLKB1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.186211686C= , CM000666.2:g.186211686C= GRCh38
NC_000004.11:g.187132840C= , CM000666.1:g.187132840C= GRCh37
NC_000004.10:g.187369834C= NCBI36
NG_007965.1:g.25167C=
NG_012095.2:g.7708C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000378802.5:c.*1045C= (CYP4V2) MANE Select ENSP00000368079.4:n.*1045C=
ENST00000502665.1:n.1858C= (CYP4V2)
ENST00000507209.5:n.7321C= (CYP4V2)
ENST00000511608.5:c.201+2414C= (KLKB1)
NM_207352.3:c.*1045C= (CYP4V2) NP_997235.3:n.*1045C=
XM_005262935.2:c.*1045C= (CYP4V2) XP_005262992.1:n.*1045C=
XM_006714184.2:c.*1045C= (CYP4V2) XP_006714247.1:n.*1045C=
XM_011531931.1:c.-3023C= (KLKB1) XP_011530233.1:n.-3023C=
XM_011531932.1:c.-3273C= (KLKB1) XP_011530234.1:n.-3273C=
XM_011531933.1:c.-3087C= (KLKB1) XP_011530235.1:n.-3087C=
XM_005262935.4:c.*1045C= (CYP4V2) XP_005262992.1:n.*1045C=
XM_017008037.1:c.*1045C= (CYP4V2) XP_016863526.1:n.*1045C=
NM_207352.4:c.*1045C= (CYP4V2) MANE Select NP_997235.3:n.*1045C=