Canonical Allele Identifier: CA432643484

Gene: COLQ

Linked Data

• MyVariant Identifiers: chr3:g.15512097A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.15470590A>C , CM000665.2:g.15470590A>C	GRCh38
NC_000003.11:g.15512097A>C , CM000665.1:g.15512097A>C	GRCh37
NC_000003.10:g.15487101A>C	NCBI36
NG_009032.1:g.56162T>G
NG_009032.2:g.56162T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000383788.10:c.663T>G MANE Select	ENSP00000373298.3:p.Pro221=
ENST00000604401.2:n.659T>G
ENST00000679838.1:c.*425T>G	ENSP00000505708.1:n.*425T>G
ENST00000680545.1:n.429T>G
ENST00000681097.1:c.663T>G	ENSP00000505397.1:p.Pro221=
ENST00000383781.8:c.633T>G	ENSP00000373291.3:p.Pro211=
ENST00000383786.9:c.561T>G	ENSP00000373296.3:p.Pro187=
ENST00000383788.9:c.663T>G	ENSP00000373298.3:p.Pro221=
ENST00000603808.5:c.663T>G	ENSP00000474271.1:p.Pro221=
ENST00000605797.1:c.492T>G	ENSP00000474936.1:p.Pro164=
NM_005677.3:c.663T>G	NP_005668.2:p.Pro221=
NM_080538.2:c.633T>G	NP_536799.1:p.Pro211=
NM_080539.3:c.561T>G	NP_536800.2:p.Pro187=
NM_005677.4:c.663T>G MANE Select	NP_005668.2:p.Pro221=
NM_080539.4:c.561T>G	NP_536800.2:p.Pro187=