Canonical Allele Identifier: CA351597935

Gene: COLQ

Linked Data

• ClinVar Variation Id: 1383050
• ClinVar RCV Id: RCV001890728 ; RCV003490914
• dbSNP Id: rs2062264317
• MyVariant Identifiers: chr3:g.15512060C>A (hg19) ; chr3:g.15470553C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.15470553C>A , CM000665.2:g.15470553C>A	GRCh38
NC_000003.11:g.15512060C>A , CM000665.1:g.15512060C>A	GRCh37
NC_000003.10:g.15487064C>A	NCBI36
NG_009032.1:g.56199G>T
NG_009032.2:g.56199G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000383788.10:c.700G>T MANE Select	ENSP00000373298.3:p.Gly234Ter
ENST00000604401.2:n.696G>T
ENST00000679838.1:c.*462G>T	ENSP00000505708.1:n.*462G>T
ENST00000680545.1:n.466G>T
ENST00000681097.1:c.700G>T	ENSP00000505397.1:p.Gly234Ter
ENST00000383781.8:c.670G>T	ENSP00000373291.3:p.Gly224Ter
ENST00000383786.9:c.598G>T	ENSP00000373296.3:p.Gly200Ter
ENST00000383788.9:c.700G>T	ENSP00000373298.3:p.Gly234Ter
ENST00000603808.5:c.700G>T	ENSP00000474271.1:p.Gly234Ter
ENST00000605797.1:c.529G>T	ENSP00000474936.1:p.Gly177Ter
NM_005677.3:c.700G>T	NP_005668.2:p.Gly234Ter
NM_080538.2:c.670G>T	NP_536799.1:p.Gly224Ter
NM_080539.3:c.598G>T	NP_536800.2:p.Gly200Ter
NM_005677.4:c.700G>T MANE Select	NP_005668.2:p.Gly234Ter
NM_080539.4:c.598G>T	NP_536800.2:p.Gly200Ter