Canonical Allele Identifier: CA2276017

Gene: COLQ

Linked Data

• dbSNP Id: rs767419139
• ExAC: 3:15512050 C / T
• gnomAD v2: 3-15512050-C-T
• gnomAD v4: 3-15470543-C-T
• MyVariant Identifiers: chr3:g.15512050C>T (hg19) ; chr3:g.15470543C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.15470543C>T , CM000665.2:g.15470543C>T	GRCh38
NC_000003.11:g.15512050C>T , CM000665.1:g.15512050C>T	GRCh37
NC_000003.10:g.15487054C>T	NCBI36
NG_009032.1:g.56209G>A
NG_009032.2:g.56209G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000383788.10:c.710G>A MANE Select	ENSP00000373298.3:p.Gly237Asp
ENST00000604401.2:n.706G>A
ENST00000679838.1:c.*472G>A	ENSP00000505708.1:n.*472G>A
ENST00000680545.1:n.476G>A
ENST00000681097.1:c.710G>A	ENSP00000505397.1:p.Gly237Asp
ENST00000383781.8:c.680G>A	ENSP00000373291.3:p.Gly227Asp
ENST00000383786.9:c.608G>A	ENSP00000373296.3:p.Gly203Asp
ENST00000383788.9:c.710G>A	ENSP00000373298.3:p.Gly237Asp
ENST00000603808.5:c.710G>A	ENSP00000474271.1:p.Gly237Asp
ENST00000605797.1:c.539G>A	ENSP00000474936.1:p.Gly180Asp
NM_005677.3:c.710G>A	NP_005668.2:p.Gly237Asp
NM_080538.2:c.680G>A	NP_536799.1:p.Gly227Asp
NM_080539.3:c.608G>A	NP_536800.2:p.Gly203Asp
NM_005677.4:c.710G>A MANE Select	NP_005668.2:p.Gly237Asp
NM_080539.4:c.608G>A	NP_536800.2:p.Gly203Asp