Canonical Allele Identifier: CA118396

Gene: COLQ

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.15458197G>A , CM000665.2:g.15458197G>A	GRCh38
NC_000003.11:g.15499704G>A , CM000665.1:g.15499704G>A	GRCh37
NC_000003.10:g.15474708G>A	NCBI36
NG_009032.1:g.68555C>T
NG_009032.2:g.68555C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_005677.4:c.943C>T MANE Select	NP_005668.2:p.Arg315Ter
ENST00000383788.10:c.943C>T MANE Select	ENSP00000373298.3:p.Arg315Ter
NM_005677.3:c.943C>T	NP_005668.2:p.Arg315Ter
NM_080538.2:c.913C>T	NP_536799.1:p.Arg305Ter
NM_080539.3:c.841C>T	NP_536800.2:p.Arg281Ter
NM_080539.4:c.841C>T	NP_536800.2:p.Arg281Ter
ENST00000383781.8:c.913C>T	ENSP00000373291.3:p.Arg305Ter
ENST00000383786.9:c.841C>T	ENSP00000373296.3:p.Arg281Ter
ENST00000383788.9:c.943C>T	ENSP00000373298.3:p.Arg315Ter
ENST00000603808.5:c.943C>T	ENSP00000474271.1:p.Arg315Ter
ENST00000604401.2:n.811-1618C>T
ENST00000679838.1:c.*705C>T	ENSP00000505708.1:n.*705C>T
ENST00000680240.1:n.672C>T
ENST00000680545.1:n.709C>T
ENST00000681097.1:c.815-1618C>T	ENSP00000505397.1:n.815-1618C>T
ENST00000681222.1:n.2828C>T