Canonical Allele Identifier: CA351598070

Gene: COLQ

Linked Data

• ClinVar Variation Id: 1503771
• ClinVar RCV Id: RCV002025695
• dbSNP Id: rs1472096340
• MyVariant Identifiers: chr3:g.15512096C>G (hg19) ; chr3:g.15470589C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.15470589C>G , CM000665.2:g.15470589C>G	GRCh38
NC_000003.11:g.15512096C>G , CM000665.1:g.15512096C>G	GRCh37
NC_000003.10:g.15487100C>G	NCBI36
NG_009032.1:g.56163G>C
NG_009032.2:g.56163G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000383788.10:c.664G>C MANE Select	ENSP00000373298.3:p.Gly222Arg
ENST00000604401.2:n.660G>C
ENST00000679838.1:c.*426G>C	ENSP00000505708.1:n.*426G>C
ENST00000680545.1:n.430G>C
ENST00000681097.1:c.664G>C	ENSP00000505397.1:p.Gly222Arg
ENST00000383781.8:c.634G>C	ENSP00000373291.3:p.Gly212Arg
ENST00000383786.9:c.562G>C	ENSP00000373296.3:p.Gly188Arg
ENST00000383788.9:c.664G>C	ENSP00000373298.3:p.Gly222Arg
ENST00000603808.5:c.664G>C	ENSP00000474271.1:p.Gly222Arg
ENST00000605797.1:c.493G>C	ENSP00000474936.1:p.Gly165Arg
NM_005677.3:c.664G>C	NP_005668.2:p.Gly222Arg
NM_080538.2:c.634G>C	NP_536799.1:p.Gly212Arg
NM_080539.3:c.562G>C	NP_536800.2:p.Gly188Arg
NM_005677.4:c.664G>C MANE Select	NP_005668.2:p.Gly222Arg
NM_080539.4:c.562G>C	NP_536800.2:p.Gly188Arg