Canonical Allele Identifier: CA2664660936

Gene: COLQ

Linked Data

• gnomAD v4: 3-15456047-T-G

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.15456047T>G , CM000665.2:g.15456047T>G	GRCh38
NC_000003.11:g.15497554T>G , CM000665.1:g.15497554T>G	GRCh37
NC_000003.10:g.15472558T>G	NCBI36
NG_009032.1:g.70705A>C
NG_009032.2:g.70705A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000383788.10:c.1075-28A>C MANE Select	ENSP00000373298.3:n.1075-28A>C
ENST00000604401.2:n.931-28A>C
ENST00000679838.1:c.*837-28A>C	ENSP00000505708.1:n.*837-28A>C
ENST00000680240.1:n.987-28A>C
ENST00000680545.1:n.841-28A>C
ENST00000681097.1:c.*89-28A>C	ENSP00000505397.1:n.*89-28A>C
ENST00000681222.1:n.4566-28A>C
ENST00000383781.8:c.1045-28A>C	ENSP00000373291.3:n.1045-28A>C
ENST00000383786.9:c.973-28A>C	ENSP00000373296.3:n.973-28A>C
ENST00000383788.9:c.1075-28A>C	ENSP00000373298.3:n.1075-28A>C
ENST00000603808.5:c.1075-28A>C	ENSP00000474271.1:n.1075-28A>C
NM_005677.3:c.1075-28A>C	NP_005668.2:n.1075-28A>C
NM_080538.2:c.1045-28A>C	NP_536799.1:n.1045-28A>C
NM_080539.3:c.973-28A>C	NP_536800.2:n.973-28A>C
NM_005677.4:c.1075-28A>C MANE Select	NP_005668.2:n.1075-28A>C
NM_080539.4:c.973-28A>C	NP_536800.2:n.973-28A>C