Canonical Allele Identifier: CA351598179

Gene: COLQ

Linked Data

• ClinVar Variation Id: 2611491
• ClinVar RCV Id: RCV003367215
• MyVariant Identifiers: chr3:g.15512120C>T (hg19) ; chr3:g.15470613C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.15470613C>T , CM000665.2:g.15470613C>T	GRCh38
NC_000003.11:g.15512120C>T , CM000665.1:g.15512120C>T	GRCh37
NC_000003.10:g.15487124C>T	NCBI36
NG_009032.1:g.56139G>A
NG_009032.2:g.56139G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000383788.10:c.640G>A MANE Select	ENSP00000373298.3:p.Glu214Lys
ENST00000604401.2:n.636G>A
ENST00000679838.1:c.*402G>A	ENSP00000505708.1:n.*402G>A
ENST00000680545.1:n.406G>A
ENST00000681097.1:c.640G>A	ENSP00000505397.1:p.Glu214Lys
ENST00000383781.8:c.610G>A	ENSP00000373291.3:p.Glu204Lys
ENST00000383786.9:c.538G>A	ENSP00000373296.3:p.Glu180Lys
ENST00000383788.9:c.640G>A	ENSP00000373298.3:p.Glu214Lys
ENST00000603808.5:c.640G>A	ENSP00000474271.1:p.Glu214Lys
ENST00000605797.1:c.469G>A	ENSP00000474936.1:p.Glu157Lys
NM_005677.3:c.640G>A	NP_005668.2:p.Glu214Lys
NM_080538.2:c.610G>A	NP_536799.1:p.Glu204Lys
NM_080539.3:c.538G>A	NP_536800.2:p.Glu180Lys
NM_005677.4:c.640G>A MANE Select	NP_005668.2:p.Glu214Lys
NM_080539.4:c.538G>A	NP_536800.2:p.Glu180Lys