Canonical Allele Identifier: CA2275984

Gene: COLQ

Linked Data

• ClinVar Variation Id: 1645120
• ClinVar RCV Id: RCV002143691 ; RCV003895969
• dbSNP Id: rs748890722
• ExAC: 3:15507949 C / T
• gnomAD v2: 3-15507949-C-T
• gnomAD v4: 3-15466442-C-T
• MyVariant Identifiers: chr3:g.15507949C>T (hg19) ; chr3:g.15466442C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.15466442C>T , CM000665.2:g.15466442C>T	GRCh38
NC_000003.11:g.15507949C>T , CM000665.1:g.15507949C>T	GRCh37
NC_000003.10:g.15482953C>T	NCBI36
NG_009032.1:g.60310G>A
NG_009032.2:g.60310G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000383788.10:c.718-5G>A MANE Select	ENSP00000373298.3:n.718-5G>A
ENST00000604401.2:n.714-5G>A
ENST00000679838.1:c.*480-5G>A	ENSP00000505708.1:n.*480-5G>A
ENST00000680545.1:n.484-5G>A
ENST00000681097.1:c.718-5G>A	ENSP00000505397.1:n.718-5G>A
ENST00000383781.8:c.688-5G>A	ENSP00000373291.3:n.688-5G>A
ENST00000383786.9:c.616-5G>A	ENSP00000373296.3:n.616-5G>A
ENST00000383788.9:c.718-5G>A	ENSP00000373298.3:n.718-5G>A
ENST00000603808.5:c.718-5G>A	ENSP00000474271.1:n.718-5G>A
ENST00000605797.1:c.547-5G>A	ENSP00000474936.1:n.547-5G>A
NM_005677.3:c.718-5G>A	NP_005668.2:n.718-5G>A
NM_080538.2:c.688-5G>A	NP_536799.1:n.688-5G>A
NM_080539.3:c.616-5G>A	NP_536800.2:n.616-5G>A
NM_005677.4:c.718-5G>A MANE Select	NP_005668.2:n.718-5G>A
NM_080539.4:c.616-5G>A	NP_536800.2:n.616-5G>A