Canonical Allele Identifier: CA1347589280
Gene: COLQ HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.15470648C= , CM000665.2:g.15470648C= GRCh38
NC_000003.11:g.15512155C= , CM000665.1:g.15512155C= GRCh37
NC_000003.10:g.15487159C= NCBI36
NG_009032.1:g.56104G=
NG_009032.2:g.56104G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000383788.10:c.637-32G= MANE Select ENSP00000373298.3:n.637-32G=
ENST00000604401.2:n.633-32G=
ENST00000679838.1:c.*399-32G= ENSP00000505708.1:n.*399-32G=
ENST00000680545.1:n.403-32G=
ENST00000681097.1:c.637-32G= ENSP00000505397.1:n.637-32G=
ENST00000383781.8:c.607-32G= ENSP00000373291.3:n.607-32G=
ENST00000383786.9:c.535-32G= ENSP00000373296.3:n.535-32G=
ENST00000383788.9:c.637-32G= ENSP00000373298.3:n.637-32G=
ENST00000603808.5:c.637-32G= ENSP00000474271.1:n.637-32G=
ENST00000605797.1:c.466-32G= ENSP00000474936.1:n.466-32G=
NM_005677.3:c.637-32G= NP_005668.2:n.637-32G=
NM_080538.2:c.607-32G= NP_536799.1:n.607-32G=
NM_080539.3:c.535-32G= NP_536800.2:n.535-32G=
NM_005677.4:c.637-32G= MANE Select NP_005668.2:n.637-32G=
NM_080539.4:c.535-32G= NP_536800.2:n.535-32G=