Canonical Allele Identifier: CA1347573622
Gene: EAF1-AS1 HGNC NCBI
COLQ HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.15450651G= , CM000665.2:g.15450651G= GRCh38
NC_000003.11:g.15492158G= , CM000665.1:g.15492158G= GRCh37
NC_000003.10:g.15467162G= NCBI36
NG_009032.1:g.76101C=
NG_009032.2:g.76101C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000608408.2:n.398+794C= (EAF1-AS1)
ENST00000626521.1:n.55+794C= (EAF1-AS1)
ENST00000629729.3:c.414+794C= ENSP00000518887.1:n.414+794C=
ENST00000383788.10:c.*993C= (COLQ) MANE Select ENSP00000373298.3:n.*993C=
ENST00000679838.1:c.*2123C= (COLQ) ENSP00000505708.1:n.*2123C=
ENST00000680545.1:n.2127C= (COLQ)
ENST00000680897.1:n.1826C= (COLQ)
ENST00000681097.1:c.*1375C= (COLQ) ENSP00000505397.1:n.*1375C=
ENST00000681222.1:n.5852C= (COLQ)
ENST00000383781.8:c.*993C= (COLQ) ENSP00000373291.3:n.*993C=
ENST00000383788.9:c.*993C= (COLQ) ENSP00000373298.3:n.*993C=
ENST00000603752.1:n.229C= (COLQ)
NM_005677.3:c.*993C= (COLQ) NP_005668.2:n.*993C=
NM_080538.2:c.*993C= (COLQ) NP_536799.1:n.*993C=
NM_080539.3:c.*993C= (COLQ) NP_536800.2:n.*993C=
NM_005677.4:c.*993C= (COLQ) MANE Select NP_005668.2:n.*993C=
NM_080539.4:c.*993C= (COLQ) NP_536800.2:n.*993C=