Canonical Allele Identifier: CA1347589246

Gene: COLQ

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.15470577G= , CM000665.2:g.15470577G=	GRCh38
NC_000003.11:g.15512084G= , CM000665.1:g.15512084G=	GRCh37
NC_000003.10:g.15487088G=	NCBI36
NG_009032.1:g.56175C=
NG_009032.2:g.56175C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000383788.10:c.676C= MANE Select	ENSP00000373298.3:p.His226=
ENST00000604401.2:n.672C=
ENST00000679838.1:c.*438C=	ENSP00000505708.1:n.*438C=
ENST00000680545.1:n.442C=
ENST00000681097.1:c.676C=	ENSP00000505397.1:p.His226=
ENST00000383781.8:c.646C=	ENSP00000373291.3:p.His216=
ENST00000383786.9:c.574C=	ENSP00000373296.3:p.His192=
ENST00000383788.9:c.676C=	ENSP00000373298.3:p.His226=
ENST00000603808.5:c.676C=	ENSP00000474271.1:p.His226=
ENST00000605797.1:c.505C=	ENSP00000474936.1:p.His169=
NM_005677.3:c.676C=	NP_005668.2:p.His226=
NM_080538.2:c.646C=	NP_536799.1:p.His216=
NM_080539.3:c.574C=	NP_536800.2:p.His192=
NM_005677.4:c.676C= MANE Select	NP_005668.2:p.His226=
NM_080539.4:c.574C=	NP_536800.2:p.His192=