Canonical Allele Identifier: CA1347573623

Gene: EAF1-AS1 COLQ

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.15450652C= , CM000665.2:g.15450652C=	GRCh38
NC_000003.11:g.15492159C= , CM000665.1:g.15492159C=	GRCh37
NC_000003.10:g.15467163C=	NCBI36
NG_009032.1:g.76100G=
NG_009032.2:g.76100G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000608408.2:n.398+793G= (EAF1-AS1)
ENST00000626521.1:n.55+793G= (EAF1-AS1)
ENST00000629729.3:c.414+793G=	ENSP00000518887.1:n.414+793G=
ENST00000383788.10:c.*992G= (COLQ) MANE Select	ENSP00000373298.3:n.*992G=
ENST00000679838.1:c.*2122G= (COLQ)	ENSP00000505708.1:n.*2122G=
ENST00000680545.1:n.2126G= (COLQ)
ENST00000680897.1:n.1825G= (COLQ)
ENST00000681097.1:c.*1374G= (COLQ)	ENSP00000505397.1:n.*1374G=
ENST00000681222.1:n.5851G= (COLQ)
ENST00000383781.8:c.*992G= (COLQ)	ENSP00000373291.3:n.*992G=
ENST00000383788.9:c.*992G= (COLQ)	ENSP00000373298.3:n.*992G=
ENST00000603752.1:n.228G= (COLQ)
NM_005677.3:c.*992G= (COLQ)	NP_005668.2:n.*992G=
NM_080538.2:c.*992G= (COLQ)	NP_536799.1:n.*992G=
NM_080539.3:c.*992G= (COLQ)	NP_536800.2:n.*992G=
NM_005677.4:c.*992G= (COLQ) MANE Select	NP_005668.2:n.*992G=
NM_080539.4:c.*992G= (COLQ)	NP_536800.2:n.*992G=