Canonical Allele Identifier: CA2276202

Gene: COLQ

Linked Data

• ClinVar Variation Id: 343852
• ClinVar RCV Id: RCV000352869
• dbSNP Id: rs750806839
• ExAC: 3:15520488 C / T
• gnomAD v2: 3-15520488-C-T
• gnomAD v3: 3-15478981-C-T
• gnomAD v4: 3-15478981-C-T
• COSMIC: COSM4545950 ; COSM4545951 ; COSM4545952 ; COSM4545953
• MyVariant Identifiers: chr3:g.15520488C>T (hg19) ; chr3:g.15478981C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.15478981C>T , CM000665.2:g.15478981C>T	GRCh38
NC_000003.11:g.15520488C>T , CM000665.1:g.15520488C>T	GRCh37
NC_000003.10:g.15495492C>T	NCBI36
NG_009032.1:g.47771G>A
NG_009032.2:g.47771G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000383788.10:c.389G>A MANE Select	ENSP00000373298.3:p.Arg130Lys
ENST00000679838.1:c.*151G>A	ENSP00000505708.1:n.*151G>A
ENST00000681097.1:c.389G>A	ENSP00000505397.1:p.Arg130Lys
ENST00000383781.8:c.359G>A	ENSP00000373291.3:p.Arg120Lys
ENST00000383786.9:c.287G>A	ENSP00000373296.3:p.Arg96Lys
ENST00000383788.9:c.389G>A	ENSP00000373298.3:p.Arg130Lys
ENST00000603469.1:n.60G>A
ENST00000603808.5:c.389G>A	ENSP00000474271.1:p.Arg130Lys
ENST00000605797.1:c.218G>A	ENSP00000474936.1:p.Arg73Lys
NM_005677.3:c.389G>A	NP_005668.2:p.Arg130Lys
NM_080538.2:c.359G>A	NP_536799.1:p.Arg120Lys
NM_080539.3:c.287G>A	NP_536800.2:p.Arg96Lys
NM_005677.4:c.389G>A MANE Select	NP_005668.2:p.Arg130Lys
NM_080539.4:c.287G>A	NP_536800.2:p.Arg96Lys