Canonical Allele Identifier: CA432643347

Gene: COLQ

Linked Data

• ClinVar Variation Id: 1585832
• ClinVar RCV Id: RCV002097810
• dbSNP Id: rs2125109713
• MyVariant Identifiers: chr3:g.15512058T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.15470551T>G , CM000665.2:g.15470551T>G	GRCh38
NC_000003.11:g.15512058T>G , CM000665.1:g.15512058T>G	GRCh37
NC_000003.10:g.15487062T>G	NCBI36
NG_009032.1:g.56201A>C
NG_009032.2:g.56201A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000383788.10:c.702A>C MANE Select	ENSP00000373298.3:p.Gly234=
ENST00000604401.2:n.698A>C
ENST00000679838.1:c.*464A>C	ENSP00000505708.1:n.*464A>C
ENST00000680545.1:n.468A>C
ENST00000681097.1:c.702A>C	ENSP00000505397.1:p.Gly234=
ENST00000383781.8:c.672A>C	ENSP00000373291.3:p.Gly224=
ENST00000383786.9:c.600A>C	ENSP00000373296.3:p.Gly200=
ENST00000383788.9:c.702A>C	ENSP00000373298.3:p.Gly234=
ENST00000603808.5:c.702A>C	ENSP00000474271.1:p.Gly234=
ENST00000605797.1:c.531A>C	ENSP00000474936.1:p.Gly177=
NM_005677.3:c.702A>C	NP_005668.2:p.Gly234=
NM_080538.2:c.672A>C	NP_536799.1:p.Gly224=
NM_080539.3:c.600A>C	NP_536800.2:p.Gly200=
NM_005677.4:c.702A>C MANE Select	NP_005668.2:p.Gly234=
NM_080539.4:c.600A>C	NP_536800.2:p.Gly200=