Canonical Allele Identifier: CA2528385521

Gene: COLQ

Linked Data

• ClinVar Variation Id: 2818783
• ClinVar RCV Id: RCV003618506
• gnomAD v4: 3-15466451-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.15466451A>G , CM000665.2:g.15466451A>G	GRCh38
NC_000003.11:g.15507958A>G , CM000665.1:g.15507958A>G	GRCh37
NC_000003.10:g.15482962A>G	NCBI36
NG_009032.1:g.60301T>C
NG_009032.2:g.60301T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000383788.10:c.718-14T>C MANE Select	ENSP00000373298.3:n.718-14T>C
ENST00000604401.2:n.714-14T>C
ENST00000679838.1:c.*480-14T>C	ENSP00000505708.1:n.*480-14T>C
ENST00000680545.1:n.484-14T>C
ENST00000681097.1:c.718-14T>C	ENSP00000505397.1:n.718-14T>C
ENST00000383781.8:c.688-14T>C	ENSP00000373291.3:n.688-14T>C
ENST00000383786.9:c.616-14T>C	ENSP00000373296.3:n.616-14T>C
ENST00000383788.9:c.718-14T>C	ENSP00000373298.3:n.718-14T>C
ENST00000603808.5:c.718-14T>C	ENSP00000474271.1:n.718-14T>C
ENST00000605797.1:c.547-14T>C	ENSP00000474936.1:n.547-14T>C
NM_005677.3:c.718-14T>C	NP_005668.2:n.718-14T>C
NM_080538.2:c.688-14T>C	NP_536799.1:n.688-14T>C
NM_080539.3:c.616-14T>C	NP_536800.2:n.616-14T>C
NM_005677.4:c.718-14T>C MANE Select	NP_005668.2:n.718-14T>C
NM_080539.4:c.616-14T>C	NP_536800.2:n.616-14T>C