Canonical Allele Identifier: CA1347589225

Gene: COLQ

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.15470537T= , CM000665.2:g.15470537T=	GRCh38
NC_000003.11:g.15512044T= , CM000665.1:g.15512044T=	GRCh37
NC_000003.10:g.15487048T=	NCBI36
NG_009032.1:g.56215A=
NG_009032.2:g.56215A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000383788.10:c.716A= MANE Select	ENSP00000373298.3:p.Gln239=
ENST00000604401.2:n.712A=
ENST00000679838.1:c.*478A=	ENSP00000505708.1:n.*478A=
ENST00000680545.1:n.482A=
ENST00000681097.1:c.716A=	ENSP00000505397.1:p.Gln239=
ENST00000383781.8:c.686A=	ENSP00000373291.3:p.Gln229=
ENST00000383786.9:c.614A=	ENSP00000373296.3:p.Gln205=
ENST00000383788.9:c.716A=	ENSP00000373298.3:p.Gln239=
ENST00000603808.5:c.716A=	ENSP00000474271.1:p.Gln239=
ENST00000605797.1:c.545A=	ENSP00000474936.1:p.Gln182=
NM_005677.3:c.716A=	NP_005668.2:p.Gln239=
NM_080538.2:c.686A=	NP_536799.1:p.Gln229=
NM_080539.3:c.614A=	NP_536800.2:p.Gln205=
NM_005677.4:c.716A= MANE Select	NP_005668.2:p.Gln239=
NM_080539.4:c.614A=	NP_536800.2:p.Gln205=