Canonical Allele Identifier: CA351597504

Gene: COLQ

Linked Data

• MyVariant Identifiers: chr3:g.15507850G>C (hg19) ; chr3:g.15466343G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.15466343G>C , CM000665.2:g.15466343G>C	GRCh38
NC_000003.11:g.15507850G>C , CM000665.1:g.15507850G>C	GRCh37
NC_000003.10:g.15482854G>C	NCBI36
NG_009032.1:g.60409C>G
NG_009032.2:g.60409C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000383788.10:c.812C>G MANE Select	ENSP00000373298.3:p.Ala271Gly
ENST00000604401.2:n.808C>G
ENST00000679838.1:c.*574C>G	ENSP00000505708.1:n.*574C>G
ENST00000680545.1:n.578C>G
ENST00000681097.1:c.812C>G	ENSP00000505397.1:p.Ala271Gly
ENST00000383781.8:c.782C>G	ENSP00000373291.3:p.Ala261Gly
ENST00000383786.9:c.710C>G	ENSP00000373296.3:p.Ala237Gly
ENST00000383788.9:c.812C>G	ENSP00000373298.3:p.Ala271Gly
ENST00000603808.5:c.812C>G	ENSP00000474271.1:p.Ala271Gly
NM_005677.3:c.812C>G	NP_005668.2:p.Ala271Gly
NM_080538.2:c.782C>G	NP_536799.1:p.Ala261Gly
NM_080539.3:c.710C>G	NP_536800.2:p.Ala237Gly
NM_005677.4:c.812C>G MANE Select	NP_005668.2:p.Ala271Gly
NM_080539.4:c.710C>G	NP_536800.2:p.Ala237Gly