Canonical Allele Identifier: CA1347573600

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.15450616T= , CM000665.2:g.15450616T= GRCh38
NC_000003.11:g.15492123T= , CM000665.1:g.15492123T= GRCh37
NC_000003.10:g.15467127T= NCBI36
NG_009032.1:g.76136A=
NG_009032.2:g.76136A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000608408.2:n.398+829A= (EAF1-AS1)
ENST00000626521.1:n.55+829A= (EAF1-AS1)
ENST00000629729.3:c.414+829A= ENSP00000518887.1:n.414+829A=
ENST00000383788.10:c.*1028A= (COLQ) MANE Select ENSP00000373298.3:n.*1028A=
ENST00000679838.1:c.*2158A= (COLQ) ENSP00000505708.1:n.*2158A=
ENST00000680545.1:n.2162A= (COLQ)
ENST00000680897.1:n.1861A= (COLQ)
ENST00000681097.1:c.*1410A= (COLQ) ENSP00000505397.1:n.*1410A=
ENST00000681222.1:n.5887A= (COLQ)
ENST00000383781.8:c.*1028A= (COLQ) ENSP00000373291.3:n.*1028A=
ENST00000383788.9:c.*1028A= (COLQ) ENSP00000373298.3:n.*1028A=
ENST00000603752.1:n.264A= (COLQ)
ENST00000617675.1:n.537T= (EAF1)
NM_005677.3:c.*1028A= (COLQ) NP_005668.2:n.*1028A=
NM_080538.2:c.*1028A= (COLQ) NP_536799.1:n.*1028A=
NM_080539.3:c.*1028A= (COLQ) NP_536800.2:n.*1028A=
NM_005677.4:c.*1028A= (COLQ) MANE Select NP_005668.2:n.*1028A=
NM_080539.4:c.*1028A= (COLQ) NP_536800.2:n.*1028A=