Canonical Allele Identifier: CA2276177

Gene: COLQ

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.15477224G>C , CM000665.2:g.15477224G>C	GRCh38
NC_000003.11:g.15518731G>C , CM000665.1:g.15518731G>C	GRCh37
NC_000003.10:g.15493735G>C	NCBI36
NG_009032.1:g.49528C>G
NG_009032.2:g.49528C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_005677.4:c.394-27C>G MANE Select	NP_005668.2:n.394-27C>G
ENST00000383788.10:c.394-27C>G MANE Select	ENSP00000373298.3:n.394-27C>G
NM_005677.3:c.394-27C>G	NP_005668.2:n.394-27C>G
NM_080538.2:c.364-27C>G	NP_536799.1:n.364-27C>G
NM_080539.3:c.292-27C>G	NP_536800.2:n.292-27C>G
NM_080539.4:c.292-27C>G	NP_536800.2:n.292-27C>G
ENST00000383781.8:c.364-27C>G	ENSP00000373291.3:n.364-27C>G
ENST00000383786.9:c.292-27C>G	ENSP00000373296.3:n.292-27C>G
ENST00000383788.9:c.394-27C>G	ENSP00000373298.3:n.394-27C>G
ENST00000603808.5:c.394-27C>G	ENSP00000474271.1:n.394-27C>G
ENST00000604401.1:n.363C>G
ENST00000604401.2:n.363C>G
ENST00000605797.1:c.223-27C>G	ENSP00000474936.1:n.223-27C>G
ENST00000679838.1:c.*156-27C>G	ENSP00000505708.1:n.*156-27C>G
ENST00000681097.1:c.394-27C>G	ENSP00000505397.1:n.394-27C>G