Canonical Allele Identifier: CA351595240

Gene: EAF1-AS1 COLQ

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.15451694A>G , CM000665.2:g.15451694A>G	GRCh38
NC_000003.11:g.15493201A>G , CM000665.1:g.15493201A>G	GRCh37
NC_000003.10:g.15468205A>G	NCBI36
NG_009032.1:g.75058T>C
NG_009032.2:g.75058T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_005677.4:c.1318T>C (COLQ) MANE Select	NP_005668.2:p.Cys440Arg
ENST00000383788.10:c.1318T>C (COLQ) MANE Select	ENSP00000373298.3:p.Cys440Arg
NM_005677.3:c.1318T>C (COLQ)	NP_005668.2:p.Cys440Arg
NM_080538.2:c.1288T>C (COLQ)	NP_536799.1:p.Cys430Arg
NM_080539.3:c.1216T>C (COLQ)	NP_536800.2:p.Cys406Arg
NM_080539.4:c.1216T>C (COLQ)	NP_536800.2:p.Cys406Arg
ENST00000383781.8:c.1288T>C (COLQ)	ENSP00000373291.3:p.Cys430Arg
ENST00000383786.9:c.1216T>C (COLQ)	ENSP00000373296.3:p.Cys406Arg
ENST00000383788.9:c.1318T>C (COLQ)	ENSP00000373298.3:p.Cys440Arg
ENST00000603808.5:c.1321T>C (COLQ)	ENSP00000474271.1:p.Cys441Arg
ENST00000604401.2:n.1174T>C (COLQ)
ENST00000608408.2:n.149T>C (EAF1-AS1)
ENST00000629729.3:c.165T>C	ENSP00000518887.1:n.165T>C
ENST00000679838.1:c.*1080T>C (COLQ)	ENSP00000505708.1:n.*1080T>C
ENST00000680240.1:n.1230T>C (COLQ)
ENST00000680545.1:n.1084T>C (COLQ)
ENST00000680897.1:n.783T>C (COLQ)
ENST00000681097.1:c.*332T>C (COLQ)	ENSP00000505397.1:n.*332T>C
ENST00000681222.1:n.4809T>C (COLQ)