Canonical Allele Identifier: CA2739822820

Gene: COLQ

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.15470630A>C , CM000665.2:g.15470630A>C	GRCh38
NC_000003.11:g.15512137A>C , CM000665.1:g.15512137A>C	GRCh37
NC_000003.10:g.15487141A>C	NCBI36
NG_009032.1:g.56122T>G
NG_009032.2:g.56122T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000383788.10:c.637-14T>G MANE Select	ENSP00000373298.3:n.637-14T>G
ENST00000604401.2:n.633-14T>G
ENST00000679838.1:c.*399-14T>G	ENSP00000505708.1:n.*399-14T>G
ENST00000680545.1:n.403-14T>G
ENST00000681097.1:c.637-14T>G	ENSP00000505397.1:n.637-14T>G
ENST00000383781.8:c.607-14T>G	ENSP00000373291.3:n.607-14T>G
ENST00000383786.9:c.535-14T>G	ENSP00000373296.3:n.535-14T>G
ENST00000383788.9:c.637-14T>G	ENSP00000373298.3:n.637-14T>G
ENST00000603808.5:c.637-14T>G	ENSP00000474271.1:n.637-14T>G
ENST00000605797.1:c.466-14T>G	ENSP00000474936.1:n.466-14T>G
NM_005677.3:c.637-14T>G	NP_005668.2:n.637-14T>G
NM_080538.2:c.607-14T>G	NP_536799.1:n.607-14T>G
NM_080539.3:c.535-14T>G	NP_536800.2:n.535-14T>G
NM_005677.4:c.637-14T>G MANE Select	NP_005668.2:n.637-14T>G
NM_080539.4:c.535-14T>G	NP_536800.2:n.535-14T>G