Canonical Allele Identifier: CA2664659809

Gene: EAF1-AS1 COLQ

Linked Data

• gnomAD v4: 3-15450809-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.15450809C>T , CM000665.2:g.15450809C>T	GRCh38
NC_000003.11:g.15492316C>T , CM000665.1:g.15492316C>T	GRCh37
NC_000003.10:g.15467320C>T	NCBI36
NG_009032.1:g.75943G>A
NG_009032.2:g.75943G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000608408.2:n.398+636G>A (EAF1-AS1)
ENST00000626521.1:n.55+636G>A (EAF1-AS1)
ENST00000629729.3:c.414+636G>A	ENSP00000518887.1:n.414+636G>A
ENST00000383788.10:c.*835G>A (COLQ) MANE Select	ENSP00000373298.3:n.*835G>A
ENST00000679838.1:c.*1965G>A (COLQ)	ENSP00000505708.1:n.*1965G>A
ENST00000680545.1:n.1969G>A (COLQ)
ENST00000680897.1:n.1668G>A (COLQ)
ENST00000681097.1:c.*1217G>A (COLQ)	ENSP00000505397.1:n.*1217G>A
ENST00000681222.1:n.5694G>A (COLQ)
ENST00000383781.8:c.*835G>A (COLQ)	ENSP00000373291.3:n.*835G>A
ENST00000383788.9:c.*835G>A (COLQ)	ENSP00000373298.3:n.*835G>A
ENST00000603752.1:n.71G>A (COLQ)
NM_005677.3:c.*835G>A (COLQ)	NP_005668.2:n.*835G>A
NM_080538.2:c.*835G>A (COLQ)	NP_536799.1:n.*835G>A
NM_080539.3:c.*835G>A (COLQ)	NP_536800.2:n.*835G>A
NM_005677.4:c.*835G>A (COLQ) MANE Select	NP_005668.2:n.*835G>A
NM_080539.4:c.*835G>A (COLQ)	NP_536800.2:n.*835G>A