Canonical Allele Identifier: CA351598018

Gene: COLQ

Linked Data

• MyVariant Identifiers: chr3:g.15512082G>T (hg19) ; chr3:g.15470575G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.15470575G>T , CM000665.2:g.15470575G>T	GRCh38
NC_000003.11:g.15512082G>T , CM000665.1:g.15512082G>T	GRCh37
NC_000003.10:g.15487086G>T	NCBI36
NG_009032.1:g.56177C>A
NG_009032.2:g.56177C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000383788.10:c.678C>A MANE Select	ENSP00000373298.3:p.His226Gln
ENST00000604401.2:n.674C>A
ENST00000679838.1:c.*440C>A	ENSP00000505708.1:n.*440C>A
ENST00000680545.1:n.444C>A
ENST00000681097.1:c.678C>A	ENSP00000505397.1:p.His226Gln
ENST00000383781.8:c.648C>A	ENSP00000373291.3:p.His216Gln
ENST00000383786.9:c.576C>A	ENSP00000373296.3:p.His192Gln
ENST00000383788.9:c.678C>A	ENSP00000373298.3:p.His226Gln
ENST00000603808.5:c.678C>A	ENSP00000474271.1:p.His226Gln
ENST00000605797.1:c.507C>A	ENSP00000474936.1:p.His169Gln
NM_005677.3:c.678C>A	NP_005668.2:p.His226Gln
NM_080538.2:c.648C>A	NP_536799.1:p.His216Gln
NM_080539.3:c.576C>A	NP_536800.2:p.His192Gln
NM_005677.4:c.678C>A MANE Select	NP_005668.2:p.His226Gln
NM_080539.4:c.576C>A	NP_536800.2:p.His192Gln