Canonical Allele Identifier: CA2276024

Gene: COLQ

Linked Data

• dbSNP Id: rs770045897
• ExAC: 3:15512081 G / C
• gnomAD v2: 3-15512081-G-C
• gnomAD v4: 3-15470574-G-C
• MyVariant Identifiers: chr3:g.15512081G>C (hg19) ; chr3:g.15470574G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.15470574G>C , CM000665.2:g.15470574G>C	GRCh38
NC_000003.11:g.15512081G>C , CM000665.1:g.15512081G>C	GRCh37
NC_000003.10:g.15487085G>C	NCBI36
NG_009032.1:g.56178C>G
NG_009032.2:g.56178C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000383788.10:c.679C>G MANE Select	ENSP00000373298.3:p.Arg227Gly
ENST00000604401.2:n.675C>G
ENST00000679838.1:c.*441C>G	ENSP00000505708.1:n.*441C>G
ENST00000680545.1:n.445C>G
ENST00000681097.1:c.679C>G	ENSP00000505397.1:p.Arg227Gly
ENST00000383781.8:c.649C>G	ENSP00000373291.3:p.Arg217Gly
ENST00000383786.9:c.577C>G	ENSP00000373296.3:p.Arg193Gly
ENST00000383788.9:c.679C>G	ENSP00000373298.3:p.Arg227Gly
ENST00000603808.5:c.679C>G	ENSP00000474271.1:p.Arg227Gly
ENST00000605797.1:c.508C>G	ENSP00000474936.1:p.Arg170Gly
NM_005677.3:c.679C>G	NP_005668.2:p.Arg227Gly
NM_080538.2:c.649C>G	NP_536799.1:p.Arg217Gly
NM_080539.3:c.577C>G	NP_536800.2:p.Arg193Gly
NM_005677.4:c.679C>G MANE Select	NP_005668.2:p.Arg227Gly
NM_080539.4:c.577C>G	NP_536800.2:p.Arg193Gly