Canonical Allele Identifier: CA351598189

Gene: COLQ

Linked Data

• COSMIC: COSM3589036 ; COSM3589037 ; COSM3589038 ; COSM3589039
• MyVariant Identifiers: chr3:g.15512123C>T (hg19) ; chr3:g.15470616C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.15470616C>T , CM000665.2:g.15470616C>T	GRCh38
NC_000003.11:g.15512123C>T , CM000665.1:g.15512123C>T	GRCh37
NC_000003.10:g.15487127C>T	NCBI36
NG_009032.1:g.56136G>A
NG_009032.2:g.56136G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000383788.10:c.637G>A MANE Select	ENSP00000373298.3:p.Gly213Ser
ENST00000604401.2:n.633G>A
ENST00000679838.1:c.*399G>A	ENSP00000505708.1:n.*399G>A
ENST00000680545.1:n.403G>A
ENST00000681097.1:c.637G>A	ENSP00000505397.1:p.Gly213Ser
ENST00000383781.8:c.607G>A	ENSP00000373291.3:p.Gly203Ser
ENST00000383786.9:c.535G>A	ENSP00000373296.3:p.Gly179Ser
ENST00000383788.9:c.637G>A	ENSP00000373298.3:p.Gly213Ser
ENST00000603808.5:c.637G>A	ENSP00000474271.1:p.Gly213Ser
ENST00000605797.1:c.466G>A	ENSP00000474936.1:p.Gly156Ser
NM_005677.3:c.637G>A	NP_005668.2:p.Gly213Ser
NM_080538.2:c.607G>A	NP_536799.1:p.Gly203Ser
NM_080539.3:c.535G>A	NP_536800.2:p.Gly179Ser
NM_005677.4:c.637G>A MANE Select	NP_005668.2:p.Gly213Ser
NM_080539.4:c.535G>A	NP_536800.2:p.Gly179Ser