Canonical Allele Identifier: CA432642316

Gene: COLQ

Linked Data

• ClinVar Variation Id: 1160195
• ClinVar RCV Id: RCV001504242
• dbSNP Id: rs1379560902
• gnomAD v2: 3-15507852-A-C
• gnomAD v3: 3-15466345-A-C
• gnomAD v4: 3-15466345-A-C
• MyVariant Identifiers: chr3:g.15507852A>C (hg19) ; chr3:g.15466345A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.15466345A>C , CM000665.2:g.15466345A>C	GRCh38
NC_000003.11:g.15507852A>C , CM000665.1:g.15507852A>C	GRCh37
NC_000003.10:g.15482856A>C	NCBI36
NG_009032.1:g.60407T>G
NG_009032.2:g.60407T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000383788.10:c.810T>G MANE Select	ENSP00000373298.3:p.Pro270=
ENST00000604401.2:n.806T>G
ENST00000679838.1:c.*572T>G	ENSP00000505708.1:n.*572T>G
ENST00000680545.1:n.576T>G
ENST00000681097.1:c.810T>G	ENSP00000505397.1:p.Pro270=
ENST00000383781.8:c.780T>G	ENSP00000373291.3:p.Pro260=
ENST00000383786.9:c.708T>G	ENSP00000373296.3:p.Pro236=
ENST00000383788.9:c.810T>G	ENSP00000373298.3:p.Pro270=
ENST00000603808.5:c.810T>G	ENSP00000474271.1:p.Pro270=
NM_005677.3:c.810T>G	NP_005668.2:p.Pro270=
NM_080538.2:c.780T>G	NP_536799.1:p.Pro260=
NM_080539.3:c.708T>G	NP_536800.2:p.Pro236=
NM_005677.4:c.810T>G MANE Select	NP_005668.2:p.Pro270=
NM_080539.4:c.708T>G	NP_536800.2:p.Pro236=