Canonical Allele Identifier: CA1347589230

Gene: COLQ

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.15470547G= , CM000665.2:g.15470547G=	GRCh38
NC_000003.11:g.15512054G= , CM000665.1:g.15512054G=	GRCh37
NC_000003.10:g.15487058G=	NCBI36
NG_009032.1:g.56205C=
NG_009032.2:g.56205C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000383788.10:c.706C= MANE Select	ENSP00000373298.3:p.Arg236=
ENST00000604401.2:n.702C=
ENST00000679838.1:c.*468C=	ENSP00000505708.1:n.*468C=
ENST00000680545.1:n.472C=
ENST00000681097.1:c.706C=	ENSP00000505397.1:p.Arg236=
ENST00000383781.8:c.676C=	ENSP00000373291.3:p.Arg226=
ENST00000383786.9:c.604C=	ENSP00000373296.3:p.Arg202=
ENST00000383788.9:c.706C=	ENSP00000373298.3:p.Arg236=
ENST00000603808.5:c.706C=	ENSP00000474271.1:p.Arg236=
ENST00000605797.1:c.535C=	ENSP00000474936.1:p.Arg179=
NM_005677.3:c.706C=	NP_005668.2:p.Arg236=
NM_080538.2:c.676C=	NP_536799.1:p.Arg226=
NM_080539.3:c.604C=	NP_536800.2:p.Arg202=
NM_005677.4:c.706C= MANE Select	NP_005668.2:p.Arg236=
NM_080539.4:c.604C=	NP_536800.2:p.Arg202=