Canonical Allele Identifier: CA432642334

Gene: COLQ

Linked Data

• dbSNP Id: rs2125103367
• MyVariant Identifiers: chr3:g.15507855T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.15466348T>G , CM000665.2:g.15466348T>G	GRCh38
NC_000003.11:g.15507855T>G , CM000665.1:g.15507855T>G	GRCh37
NC_000003.10:g.15482859T>G	NCBI36
NG_009032.1:g.60404A>C
NG_009032.2:g.60404A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000383788.10:c.807A>C MANE Select	ENSP00000373298.3:p.Pro269=
ENST00000604401.2:n.803A>C
ENST00000679838.1:c.*569A>C	ENSP00000505708.1:n.*569A>C
ENST00000680545.1:n.573A>C
ENST00000681097.1:c.807A>C	ENSP00000505397.1:p.Pro269=
ENST00000383781.8:c.777A>C	ENSP00000373291.3:p.Pro259=
ENST00000383786.9:c.705A>C	ENSP00000373296.3:p.Pro235=
ENST00000383788.9:c.807A>C	ENSP00000373298.3:p.Pro269=
ENST00000603808.5:c.807A>C	ENSP00000474271.1:p.Pro269=
NM_005677.3:c.807A>C	NP_005668.2:p.Pro269=
NM_080538.2:c.777A>C	NP_536799.1:p.Pro259=
NM_080539.3:c.705A>C	NP_536800.2:p.Pro235=
NM_005677.4:c.807A>C MANE Select	NP_005668.2:p.Pro269=
NM_080539.4:c.705A>C	NP_536800.2:p.Pro235=