Canonical Allele Identifier: CA1347573680
Gene: EAF1-AS1 HGNC NCBI
COLQ HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.15450806G= , CM000665.2:g.15450806G= GRCh38
NC_000003.11:g.15492313G= , CM000665.1:g.15492313G= GRCh37
NC_000003.10:g.15467317G= NCBI36
NG_009032.1:g.75946C=
NG_009032.2:g.75946C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000608408.2:n.398+639C= (EAF1-AS1)
ENST00000626521.1:n.55+639C= (EAF1-AS1)
ENST00000629729.3:c.414+639C= ENSP00000518887.1:n.414+639C=
ENST00000383788.10:c.*838C= (COLQ) MANE Select ENSP00000373298.3:n.*838C=
ENST00000679838.1:c.*1968C= (COLQ) ENSP00000505708.1:n.*1968C=
ENST00000680545.1:n.1972C= (COLQ)
ENST00000680897.1:n.1671C= (COLQ)
ENST00000681097.1:c.*1220C= (COLQ) ENSP00000505397.1:n.*1220C=
ENST00000681222.1:n.5697C= (COLQ)
ENST00000383781.8:c.*838C= (COLQ) ENSP00000373291.3:n.*838C=
ENST00000383788.9:c.*838C= (COLQ) ENSP00000373298.3:n.*838C=
ENST00000603752.1:n.74C= (COLQ)
NM_005677.3:c.*838C= (COLQ) NP_005668.2:n.*838C=
NM_080538.2:c.*838C= (COLQ) NP_536799.1:n.*838C=
NM_080539.3:c.*838C= (COLQ) NP_536800.2:n.*838C=
NM_005677.4:c.*838C= (COLQ) MANE Select NP_005668.2:n.*838C=
NM_080539.4:c.*838C= (COLQ) NP_536800.2:n.*838C=