Canonical Allele Identifier: CA1347573693
Gene: EAF1-AS1 HGNC NCBI
COLQ HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.15450857G= , CM000665.2:g.15450857G= GRCh38
NC_000003.11:g.15492364G= , CM000665.1:g.15492364G= GRCh37
NC_000003.10:g.15467368G= NCBI36
NG_009032.1:g.75895C=
NG_009032.2:g.75895C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000608408.2:n.398+588C= (EAF1-AS1)
ENST00000626521.1:n.55+588C= (EAF1-AS1)
ENST00000629729.3:c.414+588C= ENSP00000518887.1:n.414+588C=
ENST00000383788.10:c.*787C= (COLQ) MANE Select ENSP00000373298.3:n.*787C=
ENST00000679838.1:c.*1917C= (COLQ) ENSP00000505708.1:n.*1917C=
ENST00000680545.1:n.1921C= (COLQ)
ENST00000680897.1:n.1620C= (COLQ)
ENST00000681097.1:c.*1169C= (COLQ) ENSP00000505397.1:n.*1169C=
ENST00000681222.1:n.5646C= (COLQ)
ENST00000383781.8:c.*787C= (COLQ) ENSP00000373291.3:n.*787C=
ENST00000383788.9:c.*787C= (COLQ) ENSP00000373298.3:n.*787C=
ENST00000603752.1:n.23C= (COLQ)
NM_005677.3:c.*787C= (COLQ) NP_005668.2:n.*787C=
NM_080538.2:c.*787C= (COLQ) NP_536799.1:n.*787C=
NM_080539.3:c.*787C= (COLQ) NP_536800.2:n.*787C=
NM_005677.4:c.*787C= (COLQ) MANE Select NP_005668.2:n.*787C=
NM_080539.4:c.*787C= (COLQ) NP_536800.2:n.*787C=