Canonical Allele Identifier: CA432643519

Gene: COLQ

Linked Data

• MyVariant Identifiers: chr3:g.15512112A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.15470605A>G , CM000665.2:g.15470605A>G	GRCh38
NC_000003.11:g.15512112A>G , CM000665.1:g.15512112A>G	GRCh37
NC_000003.10:g.15487116A>G	NCBI36
NG_009032.1:g.56147T>C
NG_009032.2:g.56147T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000383788.10:c.648T>C MANE Select	ENSP00000373298.3:p.Gly216=
ENST00000604401.2:n.644T>C
ENST00000679838.1:c.*410T>C	ENSP00000505708.1:n.*410T>C
ENST00000680545.1:n.414T>C
ENST00000681097.1:c.648T>C	ENSP00000505397.1:p.Gly216=
ENST00000383781.8:c.618T>C	ENSP00000373291.3:p.Gly206=
ENST00000383786.9:c.546T>C	ENSP00000373296.3:p.Gly182=
ENST00000383788.9:c.648T>C	ENSP00000373298.3:p.Gly216=
ENST00000603808.5:c.648T>C	ENSP00000474271.1:p.Gly216=
ENST00000605797.1:c.477T>C	ENSP00000474936.1:p.Gly159=
NM_005677.3:c.648T>C	NP_005668.2:p.Gly216=
NM_080538.2:c.618T>C	NP_536799.1:p.Gly206=
NM_080539.3:c.546T>C	NP_536800.2:p.Gly182=
NM_005677.4:c.648T>C MANE Select	NP_005668.2:p.Gly216=
NM_080539.4:c.546T>C	NP_536800.2:p.Gly182=