Canonical Allele Identifier: CA1139657927

Gene: COLQ

Linked Data

• ClinVar Variation Id: 965255
• ClinVar RCV Id: RCV001239654
• dbSNP Id: rs2062200939

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.15466387dup , CM000665.2:g.15466387dup	GRCh38
NC_000003.11:g.15507894dup , CM000665.1:g.15507894dup	GRCh37
NC_000003.10:g.15482898dup	NCBI36
NG_009032.1:g.60366dup
NG_009032.2:g.60366dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000383788.10:c.769dup MANE Select	ENSP00000373298.3:p.Ser257PhefsTer?
ENST00000604401.2:n.765dup
ENST00000679838.1:c.*531dup	ENSP00000505708.1:n.*531dup
ENST00000680545.1:n.535dup
ENST00000681097.1:c.769dup	ENSP00000505397.1:p.Ser257PhefsTer29
ENST00000383781.8:c.739dup	ENSP00000373291.3:p.Ser247PhefsTer?
ENST00000383786.9:c.667dup	ENSP00000373296.3:p.Ser223PhefsTer?
ENST00000383788.9:c.769dup	ENSP00000373298.3:p.Ser257PhefsTer?
ENST00000603808.5:c.769dup	ENSP00000474271.1:p.Ser257PhefsTer?
NM_005677.3:c.769dup	NP_005668.2:p.Ser257PhefsTer?
NM_080538.2:c.739dup	NP_536799.1:p.Ser247PhefsTer?
NM_080539.3:c.667dup	NP_536800.2:p.Ser223PhefsTer?
NM_005677.4:c.769dup MANE Select	NP_005668.2:p.Ser257PhefsTer?
NM_080539.4:c.667dup	NP_536800.2:p.Ser223PhefsTer?