Canonical Allele Identifier: CA647259441

Gene: COLQ

Linked Data

• COSMIC: COSN18970792

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.15466457A>G , CM000665.2:g.15466457A>G	GRCh38
NC_000003.11:g.15507964A>G , CM000665.1:g.15507964A>G	GRCh37
NC_000003.10:g.15482968A>G	NCBI36
NG_009032.1:g.60295T>C
NG_009032.2:g.60295T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000383788.10:c.718-20T>C MANE Select	ENSP00000373298.3:n.718-20T>C
ENST00000604401.2:n.714-20T>C
ENST00000679838.1:c.*480-20T>C	ENSP00000505708.1:n.*480-20T>C
ENST00000680545.1:n.484-20T>C
ENST00000681097.1:c.718-20T>C	ENSP00000505397.1:n.718-20T>C
ENST00000383781.8:c.688-20T>C	ENSP00000373291.3:n.688-20T>C
ENST00000383786.9:c.616-20T>C	ENSP00000373296.3:n.616-20T>C
ENST00000383788.9:c.718-20T>C	ENSP00000373298.3:n.718-20T>C
ENST00000603808.5:c.718-20T>C	ENSP00000474271.1:n.718-20T>C
ENST00000605797.1:c.547-20T>C	ENSP00000474936.1:n.547-20T>C
NM_005677.3:c.718-20T>C	NP_005668.2:n.718-20T>C
NM_080538.2:c.688-20T>C	NP_536799.1:n.688-20T>C
NM_080539.3:c.616-20T>C	NP_536800.2:n.616-20T>C
NM_005677.4:c.718-20T>C MANE Select	NP_005668.2:n.718-20T>C
NM_080539.4:c.616-20T>C	NP_536800.2:n.616-20T>C