Canonical Allele Identifier: CA2275879

Gene: COLQ

Linked Data

• dbSNP Id: rs745993482
• ExAC: 3:15497537 A / C
• gnomAD v2: 3-15497537-A-C
• gnomAD v4: 3-15456030-A-C
• MyVariant Identifiers: chr3:g.15497537A>C (hg19) ; chr3:g.15456030A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.15456030A>C , CM000665.2:g.15456030A>C	GRCh38
NC_000003.11:g.15497537A>C , CM000665.1:g.15497537A>C	GRCh37
NC_000003.10:g.15472541A>C	NCBI36
NG_009032.1:g.70722T>G
NG_009032.2:g.70722T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000383788.10:c.1075-11T>G MANE Select	ENSP00000373298.3:n.1075-11T>G
ENST00000604401.2:n.931-11T>G
ENST00000679838.1:c.*837-11T>G	ENSP00000505708.1:n.*837-11T>G
ENST00000680240.1:n.987-11T>G
ENST00000680545.1:n.841-11T>G
ENST00000681097.1:c.*89-11T>G	ENSP00000505397.1:n.*89-11T>G
ENST00000681222.1:n.4566-11T>G
ENST00000383781.8:c.1045-11T>G	ENSP00000373291.3:n.1045-11T>G
ENST00000383786.9:c.973-11T>G	ENSP00000373296.3:n.973-11T>G
ENST00000383788.9:c.1075-11T>G	ENSP00000373298.3:n.1075-11T>G
ENST00000603808.5:c.1075-11T>G	ENSP00000474271.1:n.1075-11T>G
NM_005677.3:c.1075-11T>G	NP_005668.2:n.1075-11T>G
NM_080538.2:c.1045-11T>G	NP_536799.1:n.1045-11T>G
NM_080539.3:c.973-11T>G	NP_536800.2:n.973-11T>G
NM_005677.4:c.1075-11T>G MANE Select	NP_005668.2:n.1075-11T>G
NM_080539.4:c.973-11T>G	NP_536800.2:n.973-11T>G