Canonical Allele Identifier: CA351598054

Gene: COLQ

Linked Data

• MyVariant Identifiers: chr3:g.15512092A>G (hg19) ; chr3:g.15470585A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.15470585A>G , CM000665.2:g.15470585A>G	GRCh38
NC_000003.11:g.15512092A>G , CM000665.1:g.15512092A>G	GRCh37
NC_000003.10:g.15487096A>G	NCBI36
NG_009032.1:g.56167T>C
NG_009032.2:g.56167T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000383788.10:c.668T>C MANE Select	ENSP00000373298.3:p.Ile223Thr
ENST00000604401.2:n.664T>C
ENST00000679838.1:c.*430T>C	ENSP00000505708.1:n.*430T>C
ENST00000680545.1:n.434T>C
ENST00000681097.1:c.668T>C	ENSP00000505397.1:p.Ile223Thr
ENST00000383781.8:c.638T>C	ENSP00000373291.3:p.Ile213Thr
ENST00000383786.9:c.566T>C	ENSP00000373296.3:p.Ile189Thr
ENST00000383788.9:c.668T>C	ENSP00000373298.3:p.Ile223Thr
ENST00000603808.5:c.668T>C	ENSP00000474271.1:p.Ile223Thr
ENST00000605797.1:c.497T>C	ENSP00000474936.1:p.Ile166Thr
NM_005677.3:c.668T>C	NP_005668.2:p.Ile223Thr
NM_080538.2:c.638T>C	NP_536799.1:p.Ile213Thr
NM_080539.3:c.566T>C	NP_536800.2:p.Ile189Thr
NM_005677.4:c.668T>C MANE Select	NP_005668.2:p.Ile223Thr
NM_080539.4:c.566T>C	NP_536800.2:p.Ile189Thr