Canonical Allele Identifier: CA2702136209
Gene: EAF1-AS1 HGNC NCBI
COLQ HGNC NCBI

Linked Data

dbSNP Id: rs2125081439

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.15453776A>T , CM000665.2:g.15453776A>T GRCh38
NC_000003.11:g.15495283A>T , CM000665.1:g.15495283A>T GRCh37
NC_000003.10:g.15470287A>T NCBI36
NG_009032.1:g.72976T>A
NG_009032.2:g.72976T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000608408.2:n.129+53T>A (EAF1-AS1)
ENST00000629729.3:c.145+53T>A ENSP00000518887.1:n.145+53T>A
ENST00000383788.10:c.1298+53T>A (COLQ) MANE Select ENSP00000373298.3:n.1298+53T>A
ENST00000604401.2:n.1154+53T>A (COLQ)
ENST00000679838.1:c.*1060+53T>A (COLQ) ENSP00000505708.1:n.*1060+53T>A
ENST00000680240.1:n.1210+53T>A (COLQ)
ENST00000680545.1:n.1064+53T>A (COLQ)
ENST00000680897.1:n.763+53T>A (COLQ)
ENST00000681097.1:c.*312+53T>A (COLQ) ENSP00000505397.1:n.*312+53T>A
ENST00000681222.1:n.4789+53T>A (COLQ)
ENST00000383781.8:c.1268+53T>A (COLQ) ENSP00000373291.3:n.1268+53T>A
ENST00000383786.9:c.1196+53T>A (COLQ) ENSP00000373296.3:n.1196+53T>A
ENST00000383788.9:c.1298+53T>A (COLQ) ENSP00000373298.3:n.1298+53T>A
ENST00000603808.5:c.1301+53T>A (COLQ) ENSP00000474271.1:n.1301+53T>A
NM_005677.3:c.1298+53T>A (COLQ) NP_005668.2:n.1298+53T>A
NM_080538.2:c.1268+53T>A (COLQ) NP_536799.1:n.1268+53T>A
NM_080539.3:c.1196+53T>A (COLQ) NP_536800.2:n.1196+53T>A
NM_005677.4:c.1298+53T>A (COLQ) MANE Select NP_005668.2:n.1298+53T>A
NM_080539.4:c.1196+53T>A (COLQ) NP_536800.2:n.1196+53T>A