Canonical Allele Identifier: CA351598199

Gene: COLQ

Linked Data

• gnomAD v4: 3-15470618-T-C
• MyVariant Identifiers: chr3:g.15512125T>C (hg19) ; chr3:g.15470618T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.15470618T>C , CM000665.2:g.15470618T>C	GRCh38
NC_000003.11:g.15512125T>C , CM000665.1:g.15512125T>C	GRCh37
NC_000003.10:g.15487129T>C	NCBI36
NG_009032.1:g.56134A>G
NG_009032.2:g.56134A>G

Transcript Alleles

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