Canonical Allele Identifier: CA1347573625
Gene: EAF1-AS1 HGNC NCBI
COLQ HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.15450657A= , CM000665.2:g.15450657A= GRCh38
NC_000003.11:g.15492164A= , CM000665.1:g.15492164A= GRCh37
NC_000003.10:g.15467168A= NCBI36
NG_009032.1:g.76095T=
NG_009032.2:g.76095T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000608408.2:n.398+788T= (EAF1-AS1)
ENST00000626521.1:n.55+788T= (EAF1-AS1)
ENST00000629729.3:c.414+788T= ENSP00000518887.1:n.414+788T=
ENST00000383788.10:c.*987T= (COLQ) MANE Select ENSP00000373298.3:n.*987T=
ENST00000679838.1:c.*2117T= (COLQ) ENSP00000505708.1:n.*2117T=
ENST00000680545.1:n.2121T= (COLQ)
ENST00000680897.1:n.1820T= (COLQ)
ENST00000681097.1:c.*1369T= (COLQ) ENSP00000505397.1:n.*1369T=
ENST00000681222.1:n.5846T= (COLQ)
ENST00000383781.8:c.*987T= (COLQ) ENSP00000373291.3:n.*987T=
ENST00000383788.9:c.*987T= (COLQ) ENSP00000373298.3:n.*987T=
ENST00000603752.1:n.223T= (COLQ)
NM_005677.3:c.*987T= (COLQ) NP_005668.2:n.*987T=
NM_080538.2:c.*987T= (COLQ) NP_536799.1:n.*987T=
NM_080539.3:c.*987T= (COLQ) NP_536800.2:n.*987T=
NM_005677.4:c.*987T= (COLQ) MANE Select NP_005668.2:n.*987T=
NM_080539.4:c.*987T= (COLQ) NP_536800.2:n.*987T=