Canonical Allele Identifier: CA432643423

Gene: COLQ

Linked Data

• MyVariant Identifiers: chr3:g.15512079T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.15470572T>C , CM000665.2:g.15470572T>C	GRCh38
NC_000003.11:g.15512079T>C , CM000665.1:g.15512079T>C	GRCh37
NC_000003.10:g.15487083T>C	NCBI36
NG_009032.1:g.56180A>G
NG_009032.2:g.56180A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000383788.10:c.681A>G MANE Select	ENSP00000373298.3:p.Arg227=
ENST00000604401.2:n.677A>G
ENST00000679838.1:c.*443A>G	ENSP00000505708.1:n.*443A>G
ENST00000680545.1:n.447A>G
ENST00000681097.1:c.681A>G	ENSP00000505397.1:p.Arg227=
ENST00000383781.8:c.651A>G	ENSP00000373291.3:p.Arg217=
ENST00000383786.9:c.579A>G	ENSP00000373296.3:p.Arg193=
ENST00000383788.9:c.681A>G	ENSP00000373298.3:p.Arg227=
ENST00000603808.5:c.681A>G	ENSP00000474271.1:p.Arg227=
ENST00000605797.1:c.510A>G	ENSP00000474936.1:p.Arg170=
NM_005677.3:c.681A>G	NP_005668.2:p.Arg227=
NM_080538.2:c.651A>G	NP_536799.1:p.Arg217=
NM_080539.3:c.579A>G	NP_536800.2:p.Arg193=
NM_005677.4:c.681A>G MANE Select	NP_005668.2:p.Arg227=
NM_080539.4:c.579A>G	NP_536800.2:p.Arg193=