Canonical Allele Identifier: CA2664659718

Gene: EAF1-AS1 COLQ

Linked Data

• gnomAD v4: 3-15450703-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.15450703C>A , CM000665.2:g.15450703C>A	GRCh38
NC_000003.11:g.15492210C>A , CM000665.1:g.15492210C>A	GRCh37
NC_000003.10:g.15467214C>A	NCBI36
NG_009032.1:g.76049G>T
NG_009032.2:g.76049G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000608408.2:n.398+742G>T (EAF1-AS1)
ENST00000626521.1:n.55+742G>T (EAF1-AS1)
ENST00000629729.3:c.414+742G>T	ENSP00000518887.1:n.414+742G>T
ENST00000383788.10:c.*941G>T (COLQ) MANE Select	ENSP00000373298.3:n.*941G>T
ENST00000679838.1:c.*2071G>T (COLQ)	ENSP00000505708.1:n.*2071G>T
ENST00000680545.1:n.2075G>T (COLQ)
ENST00000680897.1:n.1774G>T (COLQ)
ENST00000681097.1:c.*1323G>T (COLQ)	ENSP00000505397.1:n.*1323G>T
ENST00000681222.1:n.5800G>T (COLQ)
ENST00000383781.8:c.*941G>T (COLQ)	ENSP00000373291.3:n.*941G>T
ENST00000383788.9:c.*941G>T (COLQ)	ENSP00000373298.3:n.*941G>T
ENST00000603752.1:n.177G>T (COLQ)
NM_005677.3:c.*941G>T (COLQ)	NP_005668.2:n.*941G>T
NM_080538.2:c.*941G>T (COLQ)	NP_536799.1:n.*941G>T
NM_080539.3:c.*941G>T (COLQ)	NP_536800.2:n.*941G>T
NM_005677.4:c.*941G>T (COLQ) MANE Select	NP_005668.2:n.*941G>T
NM_080539.4:c.*941G>T (COLQ)	NP_536800.2:n.*941G>T