Canonical Allele Identifier: CA2664659800

Gene: EAF1-AS1 COLQ

Linked Data

• gnomAD v4: 3-15450791-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.15450791C>T , CM000665.2:g.15450791C>T	GRCh38
NC_000003.11:g.15492298C>T , CM000665.1:g.15492298C>T	GRCh37
NC_000003.10:g.15467302C>T	NCBI36
NG_009032.1:g.75961G>A
NG_009032.2:g.75961G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000608408.2:n.398+654G>A (EAF1-AS1)
ENST00000626521.1:n.55+654G>A (EAF1-AS1)
ENST00000629729.3:c.414+654G>A	ENSP00000518887.1:n.414+654G>A
ENST00000383788.10:c.*853G>A (COLQ) MANE Select	ENSP00000373298.3:n.*853G>A
ENST00000679838.1:c.*1983G>A (COLQ)	ENSP00000505708.1:n.*1983G>A
ENST00000680545.1:n.1987G>A (COLQ)
ENST00000680897.1:n.1686G>A (COLQ)
ENST00000681097.1:c.*1235G>A (COLQ)	ENSP00000505397.1:n.*1235G>A
ENST00000681222.1:n.5712G>A (COLQ)
ENST00000383781.8:c.*853G>A (COLQ)	ENSP00000373291.3:n.*853G>A
ENST00000383788.9:c.*853G>A (COLQ)	ENSP00000373298.3:n.*853G>A
ENST00000603752.1:n.89G>A (COLQ)
NM_005677.3:c.*853G>A (COLQ)	NP_005668.2:n.*853G>A
NM_080538.2:c.*853G>A (COLQ)	NP_536799.1:n.*853G>A
NM_080539.3:c.*853G>A (COLQ)	NP_536800.2:n.*853G>A
NM_005677.4:c.*853G>A (COLQ) MANE Select	NP_005668.2:n.*853G>A
NM_080539.4:c.*853G>A (COLQ)	NP_536800.2:n.*853G>A