Canonical Allele Identifier: CA1347587513

Gene: COLQ

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.15466437C= , CM000665.2:g.15466437C=	GRCh38
NC_000003.11:g.15507944C= , CM000665.1:g.15507944C=	GRCh37
NC_000003.10:g.15482948C=	NCBI36
NG_009032.1:g.60315G=
NG_009032.2:g.60315G=

Transcript Alleles

HGVS	Amino-acid change
ENST00000383788.10:c.718G= MANE Select	ENSP00000373298.3:p.Gly240=
ENST00000604401.2:n.714G=
ENST00000679838.1:c.*480G=	ENSP00000505708.1:n.*480G=
ENST00000680545.1:n.484G=
ENST00000681097.1:c.718G=	ENSP00000505397.1:p.Gly240=
ENST00000383781.8:c.688G=	ENSP00000373291.3:p.Gly230=
ENST00000383786.9:c.616G=	ENSP00000373296.3:p.Gly206=
ENST00000383788.9:c.718G=	ENSP00000373298.3:p.Gly240=
ENST00000603808.5:c.718G=	ENSP00000474271.1:p.Gly240=
ENST00000605797.1:c.547G=	ENSP00000474936.1:p.Gly183=
NM_005677.3:c.718G=	NP_005668.2:p.Gly240=
NM_080538.2:c.688G=	NP_536799.1:p.Gly230=
NM_080539.3:c.616G=	NP_536800.2:p.Gly206=
NM_005677.4:c.718G= MANE Select	NP_005668.2:p.Gly240=
NM_080539.4:c.616G=	NP_536800.2:p.Gly206=