Canonical Allele Identifier: CA2664659734

Gene: EAF1-AS1 COLQ

Linked Data

• gnomAD v4: 3-15450723-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.15450723G>T , CM000665.2:g.15450723G>T	GRCh38
NC_000003.11:g.15492230G>T , CM000665.1:g.15492230G>T	GRCh37
NC_000003.10:g.15467234G>T	NCBI36
NG_009032.1:g.76029C>A
NG_009032.2:g.76029C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000608408.2:n.398+722C>A (EAF1-AS1)
ENST00000626521.1:n.55+722C>A (EAF1-AS1)
ENST00000629729.3:c.414+722C>A	ENSP00000518887.1:n.414+722C>A
ENST00000383788.10:c.*921C>A (COLQ) MANE Select	ENSP00000373298.3:n.*921C>A
ENST00000679838.1:c.*2051C>A (COLQ)	ENSP00000505708.1:n.*2051C>A
ENST00000680545.1:n.2055C>A (COLQ)
ENST00000680897.1:n.1754C>A (COLQ)
ENST00000681097.1:c.*1303C>A (COLQ)	ENSP00000505397.1:n.*1303C>A
ENST00000681222.1:n.5780C>A (COLQ)
ENST00000383781.8:c.*921C>A (COLQ)	ENSP00000373291.3:n.*921C>A
ENST00000383788.9:c.*921C>A (COLQ)	ENSP00000373298.3:n.*921C>A
ENST00000603752.1:n.157C>A (COLQ)
NM_005677.3:c.*921C>A (COLQ)	NP_005668.2:n.*921C>A
NM_080538.2:c.*921C>A (COLQ)	NP_536799.1:n.*921C>A
NM_080539.3:c.*921C>A (COLQ)	NP_536800.2:n.*921C>A
NM_005677.4:c.*921C>A (COLQ) MANE Select	NP_005668.2:n.*921C>A
NM_080539.4:c.*921C>A (COLQ)	NP_536800.2:n.*921C>A