Canonical Allele Identifier: CA2276026

Gene: COLQ

Linked Data

• ClinVar Variation Id: 1409606
• ClinVar RCV Id: RCV001913801
• dbSNP Id: rs780362486
• ExAC: 3:15512086 C / T
• gnomAD v2: 3-15512086-C-T
• gnomAD v3: 3-15470579-C-T
• gnomAD v4: 3-15470579-C-T
• MyVariant Identifiers: chr3:g.15512086C>T (hg19) ; chr3:g.15470579C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.15470579C>T , CM000665.2:g.15470579C>T	GRCh38
NC_000003.11:g.15512086C>T , CM000665.1:g.15512086C>T	GRCh37
NC_000003.10:g.15487090C>T	NCBI36
NG_009032.1:g.56173G>A
NG_009032.2:g.56173G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000383788.10:c.674G>A MANE Select	ENSP00000373298.3:p.Gly225Glu
ENST00000604401.2:n.670G>A
ENST00000679838.1:c.*436G>A	ENSP00000505708.1:n.*436G>A
ENST00000680545.1:n.440G>A
ENST00000681097.1:c.674G>A	ENSP00000505397.1:p.Gly225Glu
ENST00000383781.8:c.644G>A	ENSP00000373291.3:p.Gly215Glu
ENST00000383786.9:c.572G>A	ENSP00000373296.3:p.Gly191Glu
ENST00000383788.9:c.674G>A	ENSP00000373298.3:p.Gly225Glu
ENST00000603808.5:c.674G>A	ENSP00000474271.1:p.Gly225Glu
ENST00000605797.1:c.503G>A	ENSP00000474936.1:p.Gly168Glu
NM_005677.3:c.674G>A	NP_005668.2:p.Gly225Glu
NM_080538.2:c.644G>A	NP_536799.1:p.Gly215Glu
NM_080539.3:c.572G>A	NP_536800.2:p.Gly191Glu
NM_005677.4:c.674G>A MANE Select	NP_005668.2:p.Gly225Glu
NM_080539.4:c.572G>A	NP_536800.2:p.Gly191Glu