Canonical Allele Identifier: CA351597668

Gene: COLQ

Linked Data

• MyVariant Identifiers: chr3:g.15507932C>G (hg19) ; chr3:g.15466425C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.15466425C>G , CM000665.2:g.15466425C>G	GRCh38
NC_000003.11:g.15507932C>G , CM000665.1:g.15507932C>G	GRCh37
NC_000003.10:g.15482936C>G	NCBI36
NG_009032.1:g.60327G>C
NG_009032.2:g.60327G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000383788.10:c.730G>C MANE Select	ENSP00000373298.3:p.Asp244His
ENST00000604401.2:n.726G>C
ENST00000679838.1:c.*492G>C	ENSP00000505708.1:n.*492G>C
ENST00000680545.1:n.496G>C
ENST00000681097.1:c.730G>C	ENSP00000505397.1:p.Asp244His
ENST00000383781.8:c.700G>C	ENSP00000373291.3:p.Asp234His
ENST00000383786.9:c.628G>C	ENSP00000373296.3:p.Asp210His
ENST00000383788.9:c.730G>C	ENSP00000373298.3:p.Asp244His
ENST00000603808.5:c.730G>C	ENSP00000474271.1:p.Asp244His
ENST00000605797.1:c.559G>C	ENSP00000474936.1:p.Asp187His
NM_005677.3:c.730G>C	NP_005668.2:p.Asp244His
NM_080538.2:c.700G>C	NP_536799.1:p.Asp234His
NM_080539.3:c.628G>C	NP_536800.2:p.Asp210His
NM_005677.4:c.730G>C MANE Select	NP_005668.2:p.Asp244His
NM_080539.4:c.628G>C	NP_536800.2:p.Asp210His