Canonical Allele Identifier: CA70601597

Gene: COLQ

Linked Data

• dbSNP Id: rs779104097
• gnomAD v2: 3-15497522-G-T
• gnomAD v4: 3-15456015-G-T
• MyVariant Identifiers: chr3:g.15497522G>T (hg19) ; chr3:g.15456015G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.15456015G>T , CM000665.2:g.15456015G>T	GRCh38
NC_000003.11:g.15497522G>T , CM000665.1:g.15497522G>T	GRCh37
NC_000003.10:g.15472526G>T	NCBI36
NG_009032.1:g.70737C>A
NG_009032.2:g.70737C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000383788.10:c.1079C>A MANE Select	ENSP00000373298.3:p.Thr360Asn
ENST00000604401.2:n.935C>A
ENST00000679838.1:c.*841C>A	ENSP00000505708.1:n.*841C>A
ENST00000680240.1:n.991C>A
ENST00000680545.1:n.845C>A
ENST00000681097.1:c.*93C>A	ENSP00000505397.1:n.*93C>A
ENST00000681222.1:n.4570C>A
ENST00000383781.8:c.1049C>A	ENSP00000373291.3:p.Thr350Asn
ENST00000383786.9:c.977C>A	ENSP00000373296.3:p.Thr326Asn
ENST00000383788.9:c.1079C>A	ENSP00000373298.3:p.Thr360Asn
ENST00000603808.5:c.1079C>A	ENSP00000474271.1:p.Thr360Asn
NM_005677.3:c.1079C>A	NP_005668.2:p.Thr360Asn
NM_080538.2:c.1049C>A	NP_536799.1:p.Thr350Asn
NM_080539.3:c.977C>A	NP_536800.2:p.Thr326Asn
NM_005677.4:c.1079C>A MANE Select	NP_005668.2:p.Thr360Asn
NM_080539.4:c.977C>A	NP_536800.2:p.Thr326Asn