Canonical Allele Identifier: CA647452181
Gene: EAF1-AS1 HGNC NCBI
COLQ HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.15450860C>T , CM000665.2:g.15450860C>T GRCh38
NC_000003.11:g.15492367C>T , CM000665.1:g.15492367C>T GRCh37
NC_000003.10:g.15467371C>T NCBI36
NG_009032.1:g.75892G>A
NG_009032.2:g.75892G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000608408.2:n.398+585G>A (EAF1-AS1)
ENST00000626521.1:n.55+585G>A (EAF1-AS1)
ENST00000629729.3:c.414+585G>A ENSP00000518887.1:n.414+585G>A
ENST00000383788.10:c.*784G>A (COLQ) MANE Select ENSP00000373298.3:n.*784G>A
ENST00000679838.1:c.*1914G>A (COLQ) ENSP00000505708.1:n.*1914G>A
ENST00000680545.1:n.1918G>A (COLQ)
ENST00000680897.1:n.1617G>A (COLQ)
ENST00000681097.1:c.*1166G>A (COLQ) ENSP00000505397.1:n.*1166G>A
ENST00000681222.1:n.5643G>A (COLQ)
ENST00000383781.8:c.*784G>A (COLQ) ENSP00000373291.3:n.*784G>A
ENST00000383788.9:c.*784G>A (COLQ) ENSP00000373298.3:n.*784G>A
ENST00000603752.1:n.20G>A (COLQ)
NM_005677.3:c.*784G>A (COLQ) NP_005668.2:n.*784G>A
NM_080538.2:c.*784G>A (COLQ) NP_536799.1:n.*784G>A
NM_080539.3:c.*784G>A (COLQ) NP_536800.2:n.*784G>A
NM_005677.4:c.*784G>A (COLQ) MANE Select NP_005668.2:n.*784G>A
NM_080539.4:c.*784G>A (COLQ) NP_536800.2:n.*784G>A