Canonical Allele Identifier: CA2664661481

Gene: COLQ

Linked Data

• gnomAD v4: 3-15466454-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.15466454C>T , CM000665.2:g.15466454C>T	GRCh38
NC_000003.11:g.15507961C>T , CM000665.1:g.15507961C>T	GRCh37
NC_000003.10:g.15482965C>T	NCBI36
NG_009032.1:g.60298G>A
NG_009032.2:g.60298G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000383788.10:c.718-17G>A MANE Select	ENSP00000373298.3:n.718-17G>A
ENST00000604401.2:n.714-17G>A
ENST00000679838.1:c.*480-17G>A	ENSP00000505708.1:n.*480-17G>A
ENST00000680545.1:n.484-17G>A
ENST00000681097.1:c.718-17G>A	ENSP00000505397.1:n.718-17G>A
ENST00000383781.8:c.688-17G>A	ENSP00000373291.3:n.688-17G>A
ENST00000383786.9:c.616-17G>A	ENSP00000373296.3:n.616-17G>A
ENST00000383788.9:c.718-17G>A	ENSP00000373298.3:n.718-17G>A
ENST00000603808.5:c.718-17G>A	ENSP00000474271.1:n.718-17G>A
ENST00000605797.1:c.547-17G>A	ENSP00000474936.1:n.547-17G>A
NM_005677.3:c.718-17G>A	NP_005668.2:n.718-17G>A
NM_080538.2:c.688-17G>A	NP_536799.1:n.688-17G>A
NM_080539.3:c.616-17G>A	NP_536800.2:n.616-17G>A
NM_005677.4:c.718-17G>A MANE Select	NP_005668.2:n.718-17G>A
NM_080539.4:c.616-17G>A	NP_536800.2:n.616-17G>A