Canonical Allele Identifier: CA2739822805

Gene: COLQ

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.15470622A>G , CM000665.2:g.15470622A>G	GRCh38
NC_000003.11:g.15512129A>G , CM000665.1:g.15512129A>G	GRCh37
NC_000003.10:g.15487133A>G	NCBI36
NG_009032.1:g.56130T>C
NG_009032.2:g.56130T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000383788.10:c.637-6T>C MANE Select	ENSP00000373298.3:n.637-6T>C
ENST00000604401.2:n.633-6T>C
ENST00000679838.1:c.*399-6T>C	ENSP00000505708.1:n.*399-6T>C
ENST00000680545.1:n.403-6T>C
ENST00000681097.1:c.637-6T>C	ENSP00000505397.1:n.637-6T>C
ENST00000383781.8:c.607-6T>C	ENSP00000373291.3:n.607-6T>C
ENST00000383786.9:c.535-6T>C	ENSP00000373296.3:n.535-6T>C
ENST00000383788.9:c.637-6T>C	ENSP00000373298.3:n.637-6T>C
ENST00000603808.5:c.637-6T>C	ENSP00000474271.1:n.637-6T>C
ENST00000605797.1:c.466-6T>C	ENSP00000474936.1:n.466-6T>C
NM_005677.3:c.637-6T>C	NP_005668.2:n.637-6T>C
NM_080538.2:c.607-6T>C	NP_536799.1:n.607-6T>C
NM_080539.3:c.535-6T>C	NP_536800.2:n.535-6T>C
NM_005677.4:c.637-6T>C MANE Select	NP_005668.2:n.637-6T>C
NM_080539.4:c.535-6T>C	NP_536800.2:n.535-6T>C