Canonical Allele Identifier: CA2275870

Gene: COLQ

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.15455978G>A , CM000665.2:g.15455978G>A	GRCh38
NC_000003.11:g.15497485G>A , CM000665.1:g.15497485G>A	GRCh37
NC_000003.10:g.15472489G>A	NCBI36
NG_009032.1:g.70774C>T
NG_009032.2:g.70774C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_005677.4:c.1116C>T MANE Select	NP_005668.2:p.His372=
ENST00000383788.10:c.1116C>T MANE Select	ENSP00000373298.3:p.His372=
NM_005677.3:c.1116C>T	NP_005668.2:p.His372=
NM_080538.2:c.1086C>T	NP_536799.1:p.His362=
NM_080539.3:c.1014C>T	NP_536800.2:p.His338=
NM_080539.4:c.1014C>T	NP_536800.2:p.His338=
ENST00000383781.8:c.1086C>T	ENSP00000373291.3:p.His362=
ENST00000383786.9:c.1014C>T	ENSP00000373296.3:p.His338=
ENST00000383788.9:c.1116C>T	ENSP00000373298.3:p.His372=
ENST00000603808.5:c.1116C>T	ENSP00000474271.1:p.His372=
ENST00000604401.2:n.972C>T
ENST00000679838.1:c.*878C>T	ENSP00000505708.1:n.*878C>T
ENST00000680240.1:n.1028C>T
ENST00000680545.1:n.882C>T
ENST00000681097.1:c.*130C>T	ENSP00000505397.1:n.*130C>T
ENST00000681222.1:n.4607C>T