Canonical Allele Identifier: CA2276027

Gene: COLQ

Linked Data

• dbSNP Id: rs755424266
• ExAC: 3:15512090 C / A
• gnomAD v2: 3-15512090-C-A
• gnomAD v4: 3-15470583-C-A
• MyVariant Identifiers: chr3:g.15512090C>A (hg19) ; chr3:g.15470583C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.15470583C>A , CM000665.2:g.15470583C>A	GRCh38
NC_000003.11:g.15512090C>A , CM000665.1:g.15512090C>A	GRCh37
NC_000003.10:g.15487094C>A	NCBI36
NG_009032.1:g.56169G>T
NG_009032.2:g.56169G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000383788.10:c.670G>T MANE Select	ENSP00000373298.3:p.Ala224Ser
ENST00000604401.2:n.666G>T
ENST00000679838.1:c.*432G>T	ENSP00000505708.1:n.*432G>T
ENST00000680545.1:n.436G>T
ENST00000681097.1:c.670G>T	ENSP00000505397.1:p.Ala224Ser
ENST00000383781.8:c.640G>T	ENSP00000373291.3:p.Ala214Ser
ENST00000383786.9:c.568G>T	ENSP00000373296.3:p.Ala190Ser
ENST00000383788.9:c.670G>T	ENSP00000373298.3:p.Ala224Ser
ENST00000603808.5:c.670G>T	ENSP00000474271.1:p.Ala224Ser
ENST00000605797.1:c.499G>T	ENSP00000474936.1:p.Ala167Ser
NM_005677.3:c.670G>T	NP_005668.2:p.Ala224Ser
NM_080538.2:c.640G>T	NP_536799.1:p.Ala214Ser
NM_080539.3:c.568G>T	NP_536800.2:p.Ala190Ser
NM_005677.4:c.670G>T MANE Select	NP_005668.2:p.Ala224Ser
NM_080539.4:c.568G>T	NP_536800.2:p.Ala190Ser