Canonical Allele Identifier: CA1347573595

Gene: EAF1-AS1 COLQ EAF1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.15450600C= , CM000665.2:g.15450600C=	GRCh38
NC_000003.11:g.15492107C= , CM000665.1:g.15492107C=	GRCh37
NC_000003.10:g.15467111C=	NCBI36
NG_009032.1:g.76152G=
NG_009032.2:g.76152G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000608408.2:n.398+845G= (EAF1-AS1)
ENST00000626521.1:n.55+845G= (EAF1-AS1)
ENST00000629729.3:c.414+845G=	ENSP00000518887.1:n.414+845G=
ENST00000383788.10:c.*1044G= (COLQ) MANE Select	ENSP00000373298.3:n.*1044G=
ENST00000679838.1:c.*2174G= (COLQ)	ENSP00000505708.1:n.*2174G=
ENST00000680545.1:n.2178G= (COLQ)
ENST00000680897.1:n.1877G= (COLQ)
ENST00000681097.1:c.*1426G= (COLQ)	ENSP00000505397.1:n.*1426G=
ENST00000681222.1:n.5903G= (COLQ)
ENST00000383781.8:c.*1044G= (COLQ)	ENSP00000373291.3:n.*1044G=
ENST00000383788.9:c.*1044G= (COLQ)	ENSP00000373298.3:n.*1044G=
ENST00000603752.1:n.280G= (COLQ)
ENST00000617675.1:n.521C= (EAF1)
NM_005677.3:c.*1044G= (COLQ)	NP_005668.2:n.*1044G=
NM_080538.2:c.*1044G= (COLQ)	NP_536799.1:n.*1044G=
NM_080539.3:c.*1044G= (COLQ)	NP_536800.2:n.*1044G=
NM_005677.4:c.*1044G= (COLQ) MANE Select	NP_005668.2:n.*1044G=
NM_080539.4:c.*1044G= (COLQ)	NP_536800.2:n.*1044G=