Canonical Allele Identifier: CA351597892

Gene: COLQ

Linked Data

• MyVariant Identifiers: chr3:g.15512048T>C (hg19) ; chr3:g.15470541T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.15470541T>C , CM000665.2:g.15470541T>C	GRCh38
NC_000003.11:g.15512048T>C , CM000665.1:g.15512048T>C	GRCh37
NC_000003.10:g.15487052T>C	NCBI36
NG_009032.1:g.56211A>G
NG_009032.2:g.56211A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000383788.10:c.712A>G MANE Select	ENSP00000373298.3:p.Lys238Glu
ENST00000604401.2:n.708A>G
ENST00000679838.1:c.*474A>G	ENSP00000505708.1:n.*474A>G
ENST00000680545.1:n.478A>G
ENST00000681097.1:c.712A>G	ENSP00000505397.1:p.Lys238Glu
ENST00000383781.8:c.682A>G	ENSP00000373291.3:p.Lys228Glu
ENST00000383786.9:c.610A>G	ENSP00000373296.3:p.Lys204Glu
ENST00000383788.9:c.712A>G	ENSP00000373298.3:p.Lys238Glu
ENST00000603808.5:c.712A>G	ENSP00000474271.1:p.Lys238Glu
ENST00000605797.1:c.541A>G	ENSP00000474936.1:p.Lys181Glu
NM_005677.3:c.712A>G	NP_005668.2:p.Lys238Glu
NM_080538.2:c.682A>G	NP_536799.1:p.Lys228Glu
NM_080539.3:c.610A>G	NP_536800.2:p.Lys204Glu
NM_005677.4:c.712A>G MANE Select	NP_005668.2:p.Lys238Glu
NM_080539.4:c.610A>G	NP_536800.2:p.Lys204Glu