Canonical Allele Identifier: CA1347573665
Gene: EAF1-AS1 HGNC NCBI
COLQ HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.15450751G= , CM000665.2:g.15450751G= GRCh38
NC_000003.11:g.15492258G= , CM000665.1:g.15492258G= GRCh37
NC_000003.10:g.15467262G= NCBI36
NG_009032.1:g.76001C=
NG_009032.2:g.76001C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000608408.2:n.398+694C= (EAF1-AS1)
ENST00000626521.1:n.55+694C= (EAF1-AS1)
ENST00000629729.3:c.414+694C= ENSP00000518887.1:n.414+694C=
ENST00000383788.10:c.*893C= (COLQ) MANE Select ENSP00000373298.3:n.*893C=
ENST00000679838.1:c.*2023C= (COLQ) ENSP00000505708.1:n.*2023C=
ENST00000680545.1:n.2027C= (COLQ)
ENST00000680897.1:n.1726C= (COLQ)
ENST00000681097.1:c.*1275C= (COLQ) ENSP00000505397.1:n.*1275C=
ENST00000681222.1:n.5752C= (COLQ)
ENST00000383781.8:c.*893C= (COLQ) ENSP00000373291.3:n.*893C=
ENST00000383788.9:c.*893C= (COLQ) ENSP00000373298.3:n.*893C=
ENST00000603752.1:n.129C= (COLQ)
NM_005677.3:c.*893C= (COLQ) NP_005668.2:n.*893C=
NM_080538.2:c.*893C= (COLQ) NP_536799.1:n.*893C=
NM_080539.3:c.*893C= (COLQ) NP_536800.2:n.*893C=
NM_005677.4:c.*893C= (COLQ) MANE Select NP_005668.2:n.*893C=
NM_080539.4:c.*893C= (COLQ) NP_536800.2:n.*893C=