Canonical Allele Identifier: CA70613055

Gene: COLQ

Linked Data

• ClinVar Variation Id: 2688854
• ClinVar RCV Id: RCV003486047
• dbSNP Id: rs887439426
• MyVariant Identifiers: chr3:g.15512077C>A (hg19) ; chr3:g.15470570C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.15470570C>A , CM000665.2:g.15470570C>A	GRCh38
NC_000003.11:g.15512077C>A , CM000665.1:g.15512077C>A	GRCh37
NC_000003.10:g.15487081C>A	NCBI36
NG_009032.1:g.56182G>T
NG_009032.2:g.56182G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000383788.10:c.683G>T MANE Select	ENSP00000373298.3:p.Gly228Val
ENST00000604401.2:n.679G>T
ENST00000679838.1:c.*445G>T	ENSP00000505708.1:n.*445G>T
ENST00000680545.1:n.449G>T
ENST00000681097.1:c.683G>T	ENSP00000505397.1:p.Gly228Val
ENST00000383781.8:c.653G>T	ENSP00000373291.3:p.Gly218Val
ENST00000383786.9:c.581G>T	ENSP00000373296.3:p.Gly194Val
ENST00000383788.9:c.683G>T	ENSP00000373298.3:p.Gly228Val
ENST00000603808.5:c.683G>T	ENSP00000474271.1:p.Gly228Val
ENST00000605797.1:c.512G>T	ENSP00000474936.1:p.Gly171Val
NM_005677.3:c.683G>T	NP_005668.2:p.Gly228Val
NM_080538.2:c.653G>T	NP_536799.1:p.Gly218Val
NM_080539.3:c.581G>T	NP_536800.2:p.Gly194Val
NM_005677.4:c.683G>T MANE Select	NP_005668.2:p.Gly228Val
NM_080539.4:c.581G>T	NP_536800.2:p.Gly194Val