Canonical Allele Identifier: CA432642449

Gene: COLQ

Linked Data

• ClinVar Variation Id: 1989478
• ClinVar RCV Id: RCV002786529
• dbSNP Id: rs745798750
• gnomAD v2: 3-15507879-G-T
• gnomAD v4: 3-15466372-G-T
• MyVariant Identifiers: chr3:g.15507879G>T (hg19) ; chr3:g.15466372G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.15466372G>T , CM000665.2:g.15466372G>T	GRCh38
NC_000003.11:g.15507879G>T , CM000665.1:g.15507879G>T	GRCh37
NC_000003.10:g.15482883G>T	NCBI36
NG_009032.1:g.60380C>A
NG_009032.2:g.60380C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000383788.10:c.783C>A MANE Select	ENSP00000373298.3:p.Gly261=
ENST00000604401.2:n.779C>A
ENST00000679838.1:c.*545C>A	ENSP00000505708.1:n.*545C>A
ENST00000680545.1:n.549C>A
ENST00000681097.1:c.783C>A	ENSP00000505397.1:p.Gly261=
ENST00000383781.8:c.753C>A	ENSP00000373291.3:p.Gly251=
ENST00000383786.9:c.681C>A	ENSP00000373296.3:p.Gly227=
ENST00000383788.9:c.783C>A	ENSP00000373298.3:p.Gly261=
ENST00000603808.5:c.783C>A	ENSP00000474271.1:p.Gly261=
NM_005677.3:c.783C>A	NP_005668.2:p.Gly261=
NM_080538.2:c.753C>A	NP_536799.1:p.Gly251=
NM_080539.3:c.681C>A	NP_536800.2:p.Gly227=
NM_005677.4:c.783C>A MANE Select	NP_005668.2:p.Gly261=
NM_080539.4:c.681C>A	NP_536800.2:p.Gly227=