Canonical Allele Identifier: CA1347589184
Gene: COLQ HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.15470448C= , CM000665.2:g.15470448C= GRCh38
NC_000003.11:g.15511955C= , CM000665.1:g.15511955C= GRCh37
NC_000003.10:g.15486959C= NCBI36
NG_009032.1:g.56304G=
NG_009032.2:g.56304G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000383788.10:c.717+88G= MANE Select ENSP00000373298.3:n.717+88G=
ENST00000604401.2:n.713+88G=
ENST00000679838.1:c.*479+88G= ENSP00000505708.1:n.*479+88G=
ENST00000680545.1:n.483+88G=
ENST00000681097.1:c.717+88G= ENSP00000505397.1:n.717+88G=
ENST00000383781.8:c.687+88G= ENSP00000373291.3:n.687+88G=
ENST00000383786.9:c.615+88G= ENSP00000373296.3:n.615+88G=
ENST00000383788.9:c.717+88G= ENSP00000373298.3:n.717+88G=
ENST00000603808.5:c.717+88G= ENSP00000474271.1:n.717+88G=
ENST00000605797.1:c.546+88G= ENSP00000474936.1:n.546+88G=
NM_005677.3:c.717+88G= NP_005668.2:n.717+88G=
NM_080538.2:c.687+88G= NP_536799.1:n.687+88G=
NM_080539.3:c.615+88G= NP_536800.2:n.615+88G=
NM_005677.4:c.717+88G= MANE Select NP_005668.2:n.717+88G=
NM_080539.4:c.615+88G= NP_536800.2:n.615+88G=