Canonical Allele Identifier: CA432643472

Gene: COLQ

Linked Data

• dbSNP Id: rs1333225884
• gnomAD v2: 3-15512094-C-A
• gnomAD v3: 3-15470587-C-A
• gnomAD v4: 3-15470587-C-A
• MyVariant Identifiers: chr3:g.15512094C>A (hg19) ; chr3:g.15470587C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.15470587C>A , CM000665.2:g.15470587C>A	GRCh38
NC_000003.11:g.15512094C>A , CM000665.1:g.15512094C>A	GRCh37
NC_000003.10:g.15487098C>A	NCBI36
NG_009032.1:g.56165G>T
NG_009032.2:g.56165G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000383788.10:c.666G>T MANE Select	ENSP00000373298.3:p.Gly222=
ENST00000604401.2:n.662G>T
ENST00000679838.1:c.*428G>T	ENSP00000505708.1:n.*428G>T
ENST00000680545.1:n.432G>T
ENST00000681097.1:c.666G>T	ENSP00000505397.1:p.Gly222=
ENST00000383781.8:c.636G>T	ENSP00000373291.3:p.Gly212=
ENST00000383786.9:c.564G>T	ENSP00000373296.3:p.Gly188=
ENST00000383788.9:c.666G>T	ENSP00000373298.3:p.Gly222=
ENST00000603808.5:c.666G>T	ENSP00000474271.1:p.Gly222=
ENST00000605797.1:c.495G>T	ENSP00000474936.1:p.Gly165=
NM_005677.3:c.666G>T	NP_005668.2:p.Gly222=
NM_080538.2:c.636G>T	NP_536799.1:p.Gly212=
NM_080539.3:c.564G>T	NP_536800.2:p.Gly188=
NM_005677.4:c.666G>T MANE Select	NP_005668.2:p.Gly222=
NM_080539.4:c.564G>T	NP_536800.2:p.Gly188=