Canonical Allele Identifier: CA541361067

Gene: COLQ

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.15467820C>T , CM000665.2:g.15467820C>T	GRCh38
NC_000003.11:g.15509327C>T , CM000665.1:g.15509327C>T	GRCh37
NC_000003.10:g.15484331C>T	NCBI36
NG_009032.1:g.58932G>A
NG_009032.2:g.58932G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000383788.10:c.718-1383G>A MANE Select	ENSP00000373298.3:n.718-1383G>A
ENST00000604401.2:n.714-1383G>A
ENST00000679838.1:c.*480-1383G>A	ENSP00000505708.1:n.*480-1383G>A
ENST00000680545.1:n.484-1383G>A
ENST00000681097.1:c.718-1383G>A	ENSP00000505397.1:n.718-1383G>A
ENST00000383781.8:c.688-1383G>A	ENSP00000373291.3:n.688-1383G>A
ENST00000383786.9:c.616-1383G>A	ENSP00000373296.3:n.616-1383G>A
ENST00000383788.9:c.718-1383G>A	ENSP00000373298.3:n.718-1383G>A
ENST00000603808.5:c.718-1383G>A	ENSP00000474271.1:n.718-1383G>A
ENST00000605797.1:c.547-1383G>A	ENSP00000474936.1:n.547-1383G>A
NM_005677.3:c.718-1383G>A	NP_005668.2:n.718-1383G>A
NM_080538.2:c.688-1383G>A	NP_536799.1:n.688-1383G>A
NM_080539.3:c.616-1383G>A	NP_536800.2:n.616-1383G>A
NM_005677.4:c.718-1383G>A MANE Select	NP_005668.2:n.718-1383G>A
NM_080539.4:c.616-1383G>A	NP_536800.2:n.616-1383G>A