Canonical Allele Identifier: CA2664659909

Gene: EAF1-AS1 COLQ

Linked Data

• gnomAD v4: 3-15450966-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.15450966A>C , CM000665.2:g.15450966A>C	GRCh38
NC_000003.11:g.15492473A>C , CM000665.1:g.15492473A>C	GRCh37
NC_000003.10:g.15467477A>C	NCBI36
NG_009032.1:g.75786T>G
NG_009032.2:g.75786T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000608408.2:n.398+479T>G (EAF1-AS1)
ENST00000626521.1:n.55+479T>G (EAF1-AS1)
ENST00000629729.3:c.414+479T>G	ENSP00000518887.1:n.414+479T>G
ENST00000383788.10:c.*678T>G (COLQ) MANE Select	ENSP00000373298.3:n.*678T>G
ENST00000679838.1:c.*1808T>G (COLQ)	ENSP00000505708.1:n.*1808T>G
ENST00000680545.1:n.1812T>G (COLQ)
ENST00000680897.1:n.1511T>G (COLQ)
ENST00000681097.1:c.*1060T>G (COLQ)	ENSP00000505397.1:n.*1060T>G
ENST00000681222.1:n.5537T>G (COLQ)
ENST00000383781.8:c.*678T>G (COLQ)	ENSP00000373291.3:n.*678T>G
ENST00000383788.9:c.*678T>G (COLQ)	ENSP00000373298.3:n.*678T>G
NM_005677.3:c.*678T>G (COLQ)	NP_005668.2:n.*678T>G
NM_080538.2:c.*678T>G (COLQ)	NP_536799.1:n.*678T>G
NM_080539.3:c.*678T>G (COLQ)	NP_536800.2:n.*678T>G
NM_005677.4:c.*678T>G (COLQ) MANE Select	NP_005668.2:n.*678T>G
NM_080539.4:c.*678T>G (COLQ)	NP_536800.2:n.*678T>G