Canonical Allele Identifier: CA2276203

Gene: COLQ

Linked Data

• dbSNP Id: rs758861218
• ExAC: 3:15520489 T / C
• gnomAD v2: 3-15520489-T-C
• gnomAD v3: 3-15478982-T-C
• gnomAD v4: 3-15478982-T-C
• MyVariant Identifiers: chr3:g.15520489T>C (hg19) ; chr3:g.15478982T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.15478982T>C , CM000665.2:g.15478982T>C	GRCh38
NC_000003.11:g.15520489T>C , CM000665.1:g.15520489T>C	GRCh37
NC_000003.10:g.15495493T>C	NCBI36
NG_009032.1:g.47770A>G
NG_009032.2:g.47770A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000383788.10:c.388A>G MANE Select	ENSP00000373298.3:p.Arg130Gly
ENST00000679838.1:c.*150A>G	ENSP00000505708.1:n.*150A>G
ENST00000681097.1:c.388A>G	ENSP00000505397.1:p.Arg130Gly
ENST00000383781.8:c.358A>G	ENSP00000373291.3:p.Arg120Gly
ENST00000383786.9:c.286A>G	ENSP00000373296.3:p.Arg96Gly
ENST00000383788.9:c.388A>G	ENSP00000373298.3:p.Arg130Gly
ENST00000603469.1:n.59A>G
ENST00000603808.5:c.388A>G	ENSP00000474271.1:p.Arg130Gly
ENST00000605797.1:c.217A>G	ENSP00000474936.1:p.Arg73Gly
NM_005677.3:c.388A>G	NP_005668.2:p.Arg130Gly
NM_080538.2:c.358A>G	NP_536799.1:p.Arg120Gly
NM_080539.3:c.286A>G	NP_536800.2:p.Arg96Gly
NM_005677.4:c.388A>G MANE Select	NP_005668.2:p.Arg130Gly
NM_080539.4:c.286A>G	NP_536800.2:p.Arg96Gly