Canonical Allele Identifier: CA432643475

Gene: COLQ

Linked Data

• MyVariant Identifiers: chr3:g.15512094C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.15470587C>T , CM000665.2:g.15470587C>T	GRCh38
NC_000003.11:g.15512094C>T , CM000665.1:g.15512094C>T	GRCh37
NC_000003.10:g.15487098C>T	NCBI36
NG_009032.1:g.56165G>A
NG_009032.2:g.56165G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000383788.10:c.666G>A MANE Select	ENSP00000373298.3:p.Gly222=
ENST00000604401.2:n.662G>A
ENST00000679838.1:c.*428G>A	ENSP00000505708.1:n.*428G>A
ENST00000680545.1:n.432G>A
ENST00000681097.1:c.666G>A	ENSP00000505397.1:p.Gly222=
ENST00000383781.8:c.636G>A	ENSP00000373291.3:p.Gly212=
ENST00000383786.9:c.564G>A	ENSP00000373296.3:p.Gly188=
ENST00000383788.9:c.666G>A	ENSP00000373298.3:p.Gly222=
ENST00000603808.5:c.666G>A	ENSP00000474271.1:p.Gly222=
ENST00000605797.1:c.495G>A	ENSP00000474936.1:p.Gly165=
NM_005677.3:c.666G>A	NP_005668.2:p.Gly222=
NM_080538.2:c.636G>A	NP_536799.1:p.Gly212=
NM_080539.3:c.564G>A	NP_536800.2:p.Gly188=
NM_005677.4:c.666G>A MANE Select	NP_005668.2:p.Gly222=
NM_080539.4:c.564G>A	NP_536800.2:p.Gly188=