Canonical Allele Identifier: CA351597626

Gene: COLQ

Linked Data

• MyVariant Identifiers: chr3:g.15507913G>T (hg19) ; chr3:g.15466406G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.15466406G>T , CM000665.2:g.15466406G>T	GRCh38
NC_000003.11:g.15507913G>T , CM000665.1:g.15507913G>T	GRCh37
NC_000003.10:g.15482917G>T	NCBI36
NG_009032.1:g.60346C>A
NG_009032.2:g.60346C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000383788.10:c.749C>A MANE Select	ENSP00000373298.3:p.Pro250Gln
ENST00000604401.2:n.745C>A
ENST00000679838.1:c.*511C>A	ENSP00000505708.1:n.*511C>A
ENST00000680545.1:n.515C>A
ENST00000681097.1:c.749C>A	ENSP00000505397.1:p.Pro250Gln
ENST00000383781.8:c.719C>A	ENSP00000373291.3:p.Pro240Gln
ENST00000383786.9:c.647C>A	ENSP00000373296.3:p.Pro216Gln
ENST00000383788.9:c.749C>A	ENSP00000373298.3:p.Pro250Gln
ENST00000603808.5:c.749C>A	ENSP00000474271.1:p.Pro250Gln
ENST00000605797.1:c.578C>A	ENSP00000474936.1:p.Pro193Gln
NM_005677.3:c.749C>A	NP_005668.2:p.Pro250Gln
NM_080538.2:c.719C>A	NP_536799.1:p.Pro240Gln
NM_080539.3:c.647C>A	NP_536800.2:p.Pro216Gln
NM_005677.4:c.749C>A MANE Select	NP_005668.2:p.Pro250Gln
NM_080539.4:c.647C>A	NP_536800.2:p.Pro216Gln