Canonical Allele Identifier: CA2664661488

Gene: COLQ

Linked Data

• gnomAD v4: 3-15466464-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.15466464T>C , CM000665.2:g.15466464T>C	GRCh38
NC_000003.11:g.15507971T>C , CM000665.1:g.15507971T>C	GRCh37
NC_000003.10:g.15482975T>C	NCBI36
NG_009032.1:g.60288A>G
NG_009032.2:g.60288A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000383788.10:c.718-27A>G MANE Select	ENSP00000373298.3:n.718-27A>G
ENST00000604401.2:n.714-27A>G
ENST00000679838.1:c.*480-27A>G	ENSP00000505708.1:n.*480-27A>G
ENST00000680545.1:n.484-27A>G
ENST00000681097.1:c.718-27A>G	ENSP00000505397.1:n.718-27A>G
ENST00000383781.8:c.688-27A>G	ENSP00000373291.3:n.688-27A>G
ENST00000383786.9:c.616-27A>G	ENSP00000373296.3:n.616-27A>G
ENST00000383788.9:c.718-27A>G	ENSP00000373298.3:n.718-27A>G
ENST00000603808.5:c.718-27A>G	ENSP00000474271.1:n.718-27A>G
ENST00000605797.1:c.547-27A>G	ENSP00000474936.1:n.547-27A>G
NM_005677.3:c.718-27A>G	NP_005668.2:n.718-27A>G
NM_080538.2:c.688-27A>G	NP_536799.1:n.688-27A>G
NM_080539.3:c.616-27A>G	NP_536800.2:n.616-27A>G
NM_005677.4:c.718-27A>G MANE Select	NP_005668.2:n.718-27A>G
NM_080539.4:c.616-27A>G	NP_536800.2:n.616-27A>G