Canonical Allele Identifier: CA2276019

Gene: COLQ

Linked Data

• dbSNP Id: rs760669036
• ExAC: 3:15512054 G / C
• gnomAD v4: 3-15470547-G-C
• MyVariant Identifiers: chr3:g.15512054G>C (hg19) ; chr3:g.15470547G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.15470547G>C , CM000665.2:g.15470547G>C	GRCh38
NC_000003.11:g.15512054G>C , CM000665.1:g.15512054G>C	GRCh37
NC_000003.10:g.15487058G>C	NCBI36
NG_009032.1:g.56205C>G
NG_009032.2:g.56205C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000383788.10:c.706C>G MANE Select	ENSP00000373298.3:p.Arg236Gly
ENST00000604401.2:n.702C>G
ENST00000679838.1:c.*468C>G	ENSP00000505708.1:n.*468C>G
ENST00000680545.1:n.472C>G
ENST00000681097.1:c.706C>G	ENSP00000505397.1:p.Arg236Gly
ENST00000383781.8:c.676C>G	ENSP00000373291.3:p.Arg226Gly
ENST00000383786.9:c.604C>G	ENSP00000373296.3:p.Arg202Gly
ENST00000383788.9:c.706C>G	ENSP00000373298.3:p.Arg236Gly
ENST00000603808.5:c.706C>G	ENSP00000474271.1:p.Arg236Gly
ENST00000605797.1:c.535C>G	ENSP00000474936.1:p.Arg179Gly
NM_005677.3:c.706C>G	NP_005668.2:p.Arg236Gly
NM_080538.2:c.676C>G	NP_536799.1:p.Arg226Gly
NM_080539.3:c.604C>G	NP_536800.2:p.Arg202Gly
NM_005677.4:c.706C>G MANE Select	NP_005668.2:p.Arg236Gly
NM_080539.4:c.604C>G	NP_536800.2:p.Arg202Gly