Canonical Allele Identifier: CA1347589227

Gene: COLQ

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.15470542G= , CM000665.2:g.15470542G=	GRCh38
NC_000003.11:g.15512049G= , CM000665.1:g.15512049G=	GRCh37
NC_000003.10:g.15487053G=	NCBI36
NG_009032.1:g.56210C=
NG_009032.2:g.56210C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000383788.10:c.711C= MANE Select	ENSP00000373298.3:p.Gly237=
ENST00000604401.2:n.707C=
ENST00000679838.1:c.*473C=	ENSP00000505708.1:n.*473C=
ENST00000680545.1:n.477C=
ENST00000681097.1:c.711C=	ENSP00000505397.1:p.Gly237=
ENST00000383781.8:c.681C=	ENSP00000373291.3:p.Gly227=
ENST00000383786.9:c.609C=	ENSP00000373296.3:p.Gly203=
ENST00000383788.9:c.711C=	ENSP00000373298.3:p.Gly237=
ENST00000603808.5:c.711C=	ENSP00000474271.1:p.Gly237=
ENST00000605797.1:c.540C=	ENSP00000474936.1:p.Gly180=
NM_005677.3:c.711C=	NP_005668.2:p.Gly237=
NM_080538.2:c.681C=	NP_536799.1:p.Gly227=
NM_080539.3:c.609C=	NP_536800.2:p.Gly203=
NM_005677.4:c.711C= MANE Select	NP_005668.2:p.Gly237=
NM_080539.4:c.609C=	NP_536800.2:p.Gly203=