Canonical Allele Identifier: CA351598139

Gene: COLQ

Linked Data

• gnomAD v4: 3-15470606-C-G
• MyVariant Identifiers: chr3:g.15512113C>G (hg19) ; chr3:g.15470606C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.15470606C>G , CM000665.2:g.15470606C>G	GRCh38
NC_000003.11:g.15512113C>G , CM000665.1:g.15512113C>G	GRCh37
NC_000003.10:g.15487117C>G	NCBI36
NG_009032.1:g.56146G>C
NG_009032.2:g.56146G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000383788.10:c.647G>C MANE Select	ENSP00000373298.3:p.Gly216Ala
ENST00000604401.2:n.643G>C
ENST00000679838.1:c.*409G>C	ENSP00000505708.1:n.*409G>C
ENST00000680545.1:n.413G>C
ENST00000681097.1:c.647G>C	ENSP00000505397.1:p.Gly216Ala
ENST00000383781.8:c.617G>C	ENSP00000373291.3:p.Gly206Ala
ENST00000383786.9:c.545G>C	ENSP00000373296.3:p.Gly182Ala
ENST00000383788.9:c.647G>C	ENSP00000373298.3:p.Gly216Ala
ENST00000603808.5:c.647G>C	ENSP00000474271.1:p.Gly216Ala
ENST00000605797.1:c.476G>C	ENSP00000474936.1:p.Gly159Ala
NM_005677.3:c.647G>C	NP_005668.2:p.Gly216Ala
NM_080538.2:c.617G>C	NP_536799.1:p.Gly206Ala
NM_080539.3:c.545G>C	NP_536800.2:p.Gly182Ala
NM_005677.4:c.647G>C MANE Select	NP_005668.2:p.Gly216Ala
NM_080539.4:c.545G>C	NP_536800.2:p.Gly182Ala