Canonical Allele Identifier: CA2664660932

Gene: COLQ

Linked Data

• dbSNP Id: rs2125085681
• gnomAD v4: 3-15456039-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.15456039G>A , CM000665.2:g.15456039G>A	GRCh38
NC_000003.11:g.15497546G>A , CM000665.1:g.15497546G>A	GRCh37
NC_000003.10:g.15472550G>A	NCBI36
NG_009032.1:g.70713C>T
NG_009032.2:g.70713C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000383788.10:c.1075-20C>T MANE Select	ENSP00000373298.3:n.1075-20C>T
ENST00000604401.2:n.931-20C>T
ENST00000679838.1:c.*837-20C>T	ENSP00000505708.1:n.*837-20C>T
ENST00000680240.1:n.987-20C>T
ENST00000680545.1:n.841-20C>T
ENST00000681097.1:c.*89-20C>T	ENSP00000505397.1:n.*89-20C>T
ENST00000681222.1:n.4566-20C>T
ENST00000383781.8:c.1045-20C>T	ENSP00000373291.3:n.1045-20C>T
ENST00000383786.9:c.973-20C>T	ENSP00000373296.3:n.973-20C>T
ENST00000383788.9:c.1075-20C>T	ENSP00000373298.3:n.1075-20C>T
ENST00000603808.5:c.1075-20C>T	ENSP00000474271.1:n.1075-20C>T
NM_005677.3:c.1075-20C>T	NP_005668.2:n.1075-20C>T
NM_080538.2:c.1045-20C>T	NP_536799.1:n.1045-20C>T
NM_080539.3:c.973-20C>T	NP_536800.2:n.973-20C>T
NM_005677.4:c.1075-20C>T MANE Select	NP_005668.2:n.1075-20C>T
NM_080539.4:c.973-20C>T	NP_536800.2:n.973-20C>T