Canonical Allele Identifier: CA2276209

Gene: COLQ

Linked Data

• ClinVar Variation Id: 343853
• ClinVar RCV Id: RCV000824276
• dbSNP Id: rs368112392
• ExAC: 3:15520513 A / G
• gnomAD v2: 3-15520513-A-G
• gnomAD v3: 3-15479006-A-G
• gnomAD v4: 3-15479006-A-G
• MyVariant Identifiers: chr3:g.15520513A>G (hg19) ; chr3:g.15479006A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.15479006A>G , CM000665.2:g.15479006A>G	GRCh38
NC_000003.11:g.15520513A>G , CM000665.1:g.15520513A>G	GRCh37
NC_000003.10:g.15495517A>G	NCBI36
NG_009032.1:g.47746T>C
NG_009032.2:g.47746T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000383788.10:c.367-3T>C MANE Select	ENSP00000373298.3:n.367-3T>C
ENST00000679838.1:c.*129-3T>C	ENSP00000505708.1:n.*129-3T>C
ENST00000681097.1:c.367-3T>C	ENSP00000505397.1:n.367-3T>C
ENST00000383781.8:c.337-3T>C	ENSP00000373291.3:n.337-3T>C
ENST00000383786.9:c.265-3T>C	ENSP00000373296.3:n.265-3T>C
ENST00000383788.9:c.367-3T>C	ENSP00000373298.3:n.367-3T>C
ENST00000603469.1:n.38-3T>C
ENST00000603808.5:c.367-3T>C	ENSP00000474271.1:n.367-3T>C
ENST00000605797.1:c.196-3T>C	ENSP00000474936.1:n.196-3T>C
NM_005677.3:c.367-3T>C	NP_005668.2:n.367-3T>C
NM_080538.2:c.337-3T>C	NP_536799.1:n.337-3T>C
NM_080539.3:c.265-3T>C	NP_536800.2:n.265-3T>C
NM_005677.4:c.367-3T>C MANE Select	NP_005668.2:n.367-3T>C
NM_080539.4:c.265-3T>C	NP_536800.2:n.265-3T>C