Canonical Allele Identifier: CA432642529

Gene: COLQ

Linked Data

• gnomAD v4: 3-15466390-C-T
• MyVariant Identifiers: chr3:g.15507897C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.15466390C>T , CM000665.2:g.15466390C>T	GRCh38
NC_000003.11:g.15507897C>T , CM000665.1:g.15507897C>T	GRCh37
NC_000003.10:g.15482901C>T	NCBI36
NG_009032.1:g.60362G>A
NG_009032.2:g.60362G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000383788.10:c.765G>A MANE Select	ENSP00000373298.3:p.Gly255=
ENST00000604401.2:n.761G>A
ENST00000679838.1:c.*527G>A	ENSP00000505708.1:n.*527G>A
ENST00000680545.1:n.531G>A
ENST00000681097.1:c.765G>A	ENSP00000505397.1:p.Gly255=
ENST00000383781.8:c.735G>A	ENSP00000373291.3:p.Gly245=
ENST00000383786.9:c.663G>A	ENSP00000373296.3:p.Gly221=
ENST00000383788.9:c.765G>A	ENSP00000373298.3:p.Gly255=
ENST00000603808.5:c.765G>A	ENSP00000474271.1:p.Gly255=
NM_005677.3:c.765G>A	NP_005668.2:p.Gly255=
NM_080538.2:c.735G>A	NP_536799.1:p.Gly245=
NM_080539.3:c.663G>A	NP_536800.2:p.Gly221=
NM_005677.4:c.765G>A MANE Select	NP_005668.2:p.Gly255=
NM_080539.4:c.663G>A	NP_536800.2:p.Gly221=