Canonical Allele Identifier: CA1347589292

Gene: COLQ

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.15470670C= , CM000665.2:g.15470670C=	GRCh38
NC_000003.11:g.15512177C= , CM000665.1:g.15512177C=	GRCh37
NC_000003.10:g.15487181C=	NCBI36
NG_009032.1:g.56082G=
NG_009032.2:g.56082G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000383788.10:c.637-54G= MANE Select	ENSP00000373298.3:n.637-54G=
ENST00000604401.2:n.633-54G=
ENST00000679838.1:c.*399-54G=	ENSP00000505708.1:n.*399-54G=
ENST00000680545.1:n.403-54G=
ENST00000681097.1:c.637-54G=	ENSP00000505397.1:n.637-54G=
ENST00000383781.8:c.607-54G=	ENSP00000373291.3:n.607-54G=
ENST00000383786.9:c.535-54G=	ENSP00000373296.3:n.535-54G=
ENST00000383788.9:c.637-54G=	ENSP00000373298.3:n.637-54G=
ENST00000603808.5:c.637-54G=	ENSP00000474271.1:n.637-54G=
ENST00000605797.1:c.466-54G=	ENSP00000474936.1:n.466-54G=
NM_005677.3:c.637-54G=	NP_005668.2:n.637-54G=
NM_080538.2:c.607-54G=	NP_536799.1:n.607-54G=
NM_080539.3:c.535-54G=	NP_536800.2:n.535-54G=
NM_005677.4:c.637-54G= MANE Select	NP_005668.2:n.637-54G=
NM_080539.4:c.535-54G=	NP_536800.2:n.535-54G=