Canonical Allele Identifier: CA2276032

Gene: COLQ

Linked Data

• dbSNP Id: rs771329801
• ExAC: 3:15512128 A / C
• MyVariant Identifiers: chr3:g.15512128A>C (hg19) ; chr3:g.15470621A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.15470621A>C , CM000665.2:g.15470621A>C	GRCh38
NC_000003.11:g.15512128A>C , CM000665.1:g.15512128A>C	GRCh37
NC_000003.10:g.15487132A>C	NCBI36
NG_009032.1:g.56131T>G
NG_009032.2:g.56131T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000383788.10:c.637-5T>G MANE Select	ENSP00000373298.3:n.637-5T>G
ENST00000604401.2:n.633-5T>G
ENST00000679838.1:c.*399-5T>G	ENSP00000505708.1:n.*399-5T>G
ENST00000680545.1:n.403-5T>G
ENST00000681097.1:c.637-5T>G	ENSP00000505397.1:n.637-5T>G
ENST00000383781.8:c.607-5T>G	ENSP00000373291.3:n.607-5T>G
ENST00000383786.9:c.535-5T>G	ENSP00000373296.3:n.535-5T>G
ENST00000383788.9:c.637-5T>G	ENSP00000373298.3:n.637-5T>G
ENST00000603808.5:c.637-5T>G	ENSP00000474271.1:n.637-5T>G
ENST00000605797.1:c.466-5T>G	ENSP00000474936.1:n.466-5T>G
NM_005677.3:c.637-5T>G	NP_005668.2:n.637-5T>G
NM_080538.2:c.607-5T>G	NP_536799.1:n.607-5T>G
NM_080539.3:c.535-5T>G	NP_536800.2:n.535-5T>G
NM_005677.4:c.637-5T>G MANE Select	NP_005668.2:n.637-5T>G
NM_080539.4:c.535-5T>G	NP_536800.2:n.535-5T>G