Canonical Allele Identifier: CA2664659659

Gene: EAF1-AS1 COLQ EAF1

Linked Data

• gnomAD v4: 3-15450624-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.15450624G>A , CM000665.2:g.15450624G>A	GRCh38
NC_000003.11:g.15492131G>A , CM000665.1:g.15492131G>A	GRCh37
NC_000003.10:g.15467135G>A	NCBI36
NG_009032.1:g.76128C>T
NG_009032.2:g.76128C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000608408.2:n.398+821C>T (EAF1-AS1)
ENST00000626521.1:n.55+821C>T (EAF1-AS1)
ENST00000629729.3:c.414+821C>T	ENSP00000518887.1:n.414+821C>T
ENST00000383788.10:c.*1020C>T (COLQ) MANE Select	ENSP00000373298.3:n.*1020C>T
ENST00000679838.1:c.*2150C>T (COLQ)	ENSP00000505708.1:n.*2150C>T
ENST00000680545.1:n.2154C>T (COLQ)
ENST00000680897.1:n.1853C>T (COLQ)
ENST00000681097.1:c.*1402C>T (COLQ)	ENSP00000505397.1:n.*1402C>T
ENST00000681222.1:n.5879C>T (COLQ)
ENST00000383781.8:c.*1020C>T (COLQ)	ENSP00000373291.3:n.*1020C>T
ENST00000383788.9:c.*1020C>T (COLQ)	ENSP00000373298.3:n.*1020C>T
ENST00000603752.1:n.256C>T (COLQ)
ENST00000617675.1:n.545G>A (EAF1)
NM_005677.3:c.*1020C>T (COLQ)	NP_005668.2:n.*1020C>T
NM_080538.2:c.*1020C>T (COLQ)	NP_536799.1:n.*1020C>T
NM_080539.3:c.*1020C>T (COLQ)	NP_536800.2:n.*1020C>T
NM_005677.4:c.*1020C>T (COLQ) MANE Select	NP_005668.2:n.*1020C>T
NM_080539.4:c.*1020C>T (COLQ)	NP_536800.2:n.*1020C>T