Canonical Allele Identifier: CA901022779

Gene: COLQ

Linked Data

• dbSNP Id: rs1394466084
• gnomAD v3: 3-15478919-T-C
• gnomAD v4: 3-15478919-T-C
• MyVariant Identifiers: chr3:g.15520426T>C (hg19) ; chr3:g.15478919T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.15478919T>C , CM000665.2:g.15478919T>C	GRCh38
NC_000003.11:g.15520426T>C , CM000665.1:g.15520426T>C	GRCh37
NC_000003.10:g.15495430T>C	NCBI36
NG_009032.1:g.47833A>G
NG_009032.2:g.47833A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000383788.10:c.393+58A>G MANE Select	ENSP00000373298.3:n.393+58A>G
ENST00000679838.1:c.*155+58A>G	ENSP00000505708.1:n.*155+58A>G
ENST00000681097.1:c.393+58A>G	ENSP00000505397.1:n.393+58A>G
ENST00000383781.8:c.363+58A>G	ENSP00000373291.3:n.363+58A>G
ENST00000383786.9:c.291+58A>G	ENSP00000373296.3:n.291+58A>G
ENST00000383788.9:c.393+58A>G	ENSP00000373298.3:n.393+58A>G
ENST00000603469.1:n.83+39A>G
ENST00000603808.5:c.393+58A>G	ENSP00000474271.1:n.393+58A>G
ENST00000605797.1:c.222+58A>G	ENSP00000474936.1:n.222+58A>G
NM_005677.3:c.393+58A>G	NP_005668.2:n.393+58A>G
NM_080538.2:c.363+58A>G	NP_536799.1:n.363+58A>G
NM_080539.3:c.291+58A>G	NP_536800.2:n.291+58A>G
NM_005677.4:c.393+58A>G MANE Select	NP_005668.2:n.393+58A>G
NM_080539.4:c.291+58A>G	NP_536800.2:n.291+58A>G