Canonical Allele Identifier: CA2664659836

Gene: EAF1-AS1 COLQ

Linked Data

• gnomAD v4: 3-15450855-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.15450855A>G , CM000665.2:g.15450855A>G	GRCh38
NC_000003.11:g.15492362A>G , CM000665.1:g.15492362A>G	GRCh37
NC_000003.10:g.15467366A>G	NCBI36
NG_009032.1:g.75897T>C
NG_009032.2:g.75897T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000608408.2:n.398+590T>C (EAF1-AS1)
ENST00000626521.1:n.55+590T>C (EAF1-AS1)
ENST00000629729.3:c.414+590T>C	ENSP00000518887.1:n.414+590T>C
ENST00000383788.10:c.*789T>C (COLQ) MANE Select	ENSP00000373298.3:n.*789T>C
ENST00000679838.1:c.*1919T>C (COLQ)	ENSP00000505708.1:n.*1919T>C
ENST00000680545.1:n.1923T>C (COLQ)
ENST00000680897.1:n.1622T>C (COLQ)
ENST00000681097.1:c.*1171T>C (COLQ)	ENSP00000505397.1:n.*1171T>C
ENST00000681222.1:n.5648T>C (COLQ)
ENST00000383781.8:c.*789T>C (COLQ)	ENSP00000373291.3:n.*789T>C
ENST00000383788.9:c.*789T>C (COLQ)	ENSP00000373298.3:n.*789T>C
ENST00000603752.1:n.25T>C (COLQ)
NM_005677.3:c.*789T>C (COLQ)	NP_005668.2:n.*789T>C
NM_080538.2:c.*789T>C (COLQ)	NP_536799.1:n.*789T>C
NM_080539.3:c.*789T>C (COLQ)	NP_536800.2:n.*789T>C
NM_005677.4:c.*789T>C (COLQ) MANE Select	NP_005668.2:n.*789T>C
NM_080539.4:c.*789T>C (COLQ)	NP_536800.2:n.*789T>C