Canonical Allele Identifier: CA351597657

Gene: COLQ

Linked Data

• gnomAD v4: 3-15466420-A-T
• MyVariant Identifiers: chr3:g.15507927A>T (hg19) ; chr3:g.15466420A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.15466420A>T , CM000665.2:g.15466420A>T	GRCh38
NC_000003.11:g.15507927A>T , CM000665.1:g.15507927A>T	GRCh37
NC_000003.10:g.15482931A>T	NCBI36
NG_009032.1:g.60332T>A
NG_009032.2:g.60332T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000383788.10:c.735T>A MANE Select	ENSP00000373298.3:p.Ser245Arg
ENST00000604401.2:n.731T>A
ENST00000679838.1:c.*497T>A	ENSP00000505708.1:n.*497T>A
ENST00000680545.1:n.501T>A
ENST00000681097.1:c.735T>A	ENSP00000505397.1:p.Ser245Arg
ENST00000383781.8:c.705T>A	ENSP00000373291.3:p.Ser235Arg
ENST00000383786.9:c.633T>A	ENSP00000373296.3:p.Ser211Arg
ENST00000383788.9:c.735T>A	ENSP00000373298.3:p.Ser245Arg
ENST00000603808.5:c.735T>A	ENSP00000474271.1:p.Ser245Arg
ENST00000605797.1:c.564T>A	ENSP00000474936.1:p.Ser188Arg
NM_005677.3:c.735T>A	NP_005668.2:p.Ser245Arg
NM_080538.2:c.705T>A	NP_536799.1:p.Ser235Arg
NM_080539.3:c.633T>A	NP_536800.2:p.Ser211Arg
NM_005677.4:c.735T>A MANE Select	NP_005668.2:p.Ser245Arg
NM_080539.4:c.633T>A	NP_536800.2:p.Ser211Arg