Canonical Allele Identifier: CA1347573582

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.15450558C= , CM000665.2:g.15450558C= GRCh38
NC_000003.11:g.15492065C= , CM000665.1:g.15492065C= GRCh37
NC_000003.10:g.15467069C= NCBI36
NG_009032.1:g.76194G=
NG_009032.2:g.76194G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000608408.2:n.398+887G= (EAF1-AS1)
ENST00000626521.1:n.55+887G= (EAF1-AS1)
ENST00000629729.3:c.414+887G= ENSP00000518887.1:n.414+887G=
ENST00000383788.10:c.*1086G= (COLQ) MANE Select ENSP00000373298.3:n.*1086G=
ENST00000679838.1:c.*2216G= (COLQ) ENSP00000505708.1:n.*2216G=
ENST00000680545.1:n.2220G= (COLQ)
ENST00000680897.1:n.1919G= (COLQ)
ENST00000681097.1:c.*1468G= (COLQ) ENSP00000505397.1:n.*1468G=
ENST00000681222.1:n.5945G= (COLQ)
ENST00000383781.8:c.*1086G= (COLQ) ENSP00000373291.3:n.*1086G=
ENST00000383788.9:c.*1086G= (COLQ) ENSP00000373298.3:n.*1086G=
ENST00000603752.1:n.322G= (COLQ)
ENST00000617675.1:n.479C= (EAF1)
NM_005677.3:c.*1086G= (COLQ) NP_005668.2:n.*1086G=
NM_080538.2:c.*1086G= (COLQ) NP_536799.1:n.*1086G=
NM_080539.3:c.*1086G= (COLQ) NP_536800.2:n.*1086G=
NM_005677.4:c.*1086G= (COLQ) MANE Select NP_005668.2:n.*1086G=
NM_080539.4:c.*1086G= (COLQ) NP_536800.2:n.*1086G=