Canonical Allele Identifier: CA351598062

Gene: COLQ

Linked Data

• MyVariant Identifiers: chr3:g.15512095C>A (hg19) ; chr3:g.15470588C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.15470588C>A , CM000665.2:g.15470588C>A	GRCh38
NC_000003.11:g.15512095C>A , CM000665.1:g.15512095C>A	GRCh37
NC_000003.10:g.15487099C>A	NCBI36
NG_009032.1:g.56164G>T
NG_009032.2:g.56164G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000383788.10:c.665G>T MANE Select	ENSP00000373298.3:p.Gly222Val
ENST00000604401.2:n.661G>T
ENST00000679838.1:c.*427G>T	ENSP00000505708.1:n.*427G>T
ENST00000680545.1:n.431G>T
ENST00000681097.1:c.665G>T	ENSP00000505397.1:p.Gly222Val
ENST00000383781.8:c.635G>T	ENSP00000373291.3:p.Gly212Val
ENST00000383786.9:c.563G>T	ENSP00000373296.3:p.Gly188Val
ENST00000383788.9:c.665G>T	ENSP00000373298.3:p.Gly222Val
ENST00000603808.5:c.665G>T	ENSP00000474271.1:p.Gly222Val
ENST00000605797.1:c.494G>T	ENSP00000474936.1:p.Gly165Val
NM_005677.3:c.665G>T	NP_005668.2:p.Gly222Val
NM_080538.2:c.635G>T	NP_536799.1:p.Gly212Val
NM_080539.3:c.563G>T	NP_536800.2:p.Gly188Val
NM_005677.4:c.665G>T MANE Select	NP_005668.2:p.Gly222Val
NM_080539.4:c.563G>T	NP_536800.2:p.Gly188Val