Canonical Allele Identifier: CA1347573620

Gene: EAF1-AS1 COLQ

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.15450650C= , CM000665.2:g.15450650C=	GRCh38
NC_000003.11:g.15492157C= , CM000665.1:g.15492157C=	GRCh37
NC_000003.10:g.15467161C=	NCBI36
NG_009032.1:g.76102G=
NG_009032.2:g.76102G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000608408.2:n.398+795G= (EAF1-AS1)
ENST00000626521.1:n.55+795G= (EAF1-AS1)
ENST00000629729.3:c.414+795G=	ENSP00000518887.1:n.414+795G=
ENST00000383788.10:c.*994G= (COLQ) MANE Select	ENSP00000373298.3:n.*994G=
ENST00000679838.1:c.*2124G= (COLQ)	ENSP00000505708.1:n.*2124G=
ENST00000680545.1:n.2128G= (COLQ)
ENST00000680897.1:n.1827G= (COLQ)
ENST00000681097.1:c.*1376G= (COLQ)	ENSP00000505397.1:n.*1376G=
ENST00000681222.1:n.5853G= (COLQ)
ENST00000383781.8:c.*994G= (COLQ)	ENSP00000373291.3:n.*994G=
ENST00000383788.9:c.*994G= (COLQ)	ENSP00000373298.3:n.*994G=
ENST00000603752.1:n.230G= (COLQ)
NM_005677.3:c.*994G= (COLQ)	NP_005668.2:n.*994G=
NM_080538.2:c.*994G= (COLQ)	NP_536799.1:n.*994G=
NM_080539.3:c.*994G= (COLQ)	NP_536800.2:n.*994G=
NM_005677.4:c.*994G= (COLQ) MANE Select	NP_005668.2:n.*994G=
NM_080539.4:c.*994G= (COLQ)	NP_536800.2:n.*994G=