Canonical Allele Identifier: CA246110

Gene: COLQ

Linked Data

• ClinVar Variation Id: 197779
• ClinVar RCV Id: RCV000178910 ; RCV000687069
• dbSNP Id: rs142980906
• ExAC: 3:15520486 T / C
• gnomAD v2: 3-15520486-T-C
• gnomAD v3: 3-15478979-T-C
• gnomAD v4: 3-15478979-T-C
• COSMIC: COSM1579348 ; COSM1579349
• MyVariant Identifiers: chr3:g.15520486T>C (hg19) ; chr3:g.15478979T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.15478979T>C , CM000665.2:g.15478979T>C	GRCh38
NC_000003.11:g.15520486T>C , CM000665.1:g.15520486T>C	GRCh37
NC_000003.10:g.15495490T>C	NCBI36
NG_009032.1:g.47773A>G
NG_009032.2:g.47773A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000383788.10:c.391A>G MANE Select	ENSP00000373298.3:p.Lys131Glu
ENST00000679838.1:c.*153A>G	ENSP00000505708.1:n.*153A>G
ENST00000681097.1:c.391A>G	ENSP00000505397.1:p.Lys131Glu
ENST00000383781.8:c.361A>G	ENSP00000373291.3:p.Lys121Glu
ENST00000383786.9:c.289A>G	ENSP00000373296.3:p.Lys97Glu
ENST00000383788.9:c.391A>G	ENSP00000373298.3:p.Lys131Glu
ENST00000603469.1:n.62A>G
ENST00000603808.5:c.391A>G	ENSP00000474271.1:p.Lys131Glu
ENST00000605797.1:c.220A>G	ENSP00000474936.1:p.Lys74Glu
NM_005677.3:c.391A>G	NP_005668.2:p.Lys131Glu
NM_080538.2:c.361A>G	NP_536799.1:p.Lys121Glu
NM_080539.3:c.289A>G	NP_536800.2:p.Lys97Glu
NM_005677.4:c.391A>G MANE Select	NP_005668.2:p.Lys131Glu
NM_080539.4:c.289A>G	NP_536800.2:p.Lys97Glu