Canonical Allele Identifier: CA70599082

Gene: EAF1-AS1 COLQ

Linked Data

• dbSNP Id: rs1052031317
• gnomAD v4: 3-15450939-G-T
• MyVariant Identifiers: chr3:g.15450939G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.15450939G>T , CM000665.2:g.15450939G>T	GRCh38
NC_000003.11:g.15492446G>T , CM000665.1:g.15492446G>T	GRCh37
NC_000003.10:g.15467450G>T	NCBI36
NG_009032.1:g.75813C>A
NG_009032.2:g.75813C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000608408.2:n.398+506C>A (EAF1-AS1)
ENST00000626521.1:n.55+506C>A (EAF1-AS1)
ENST00000629729.3:c.414+506C>A	ENSP00000518887.1:n.414+506C>A
ENST00000383788.10:c.*705C>A (COLQ) MANE Select	ENSP00000373298.3:n.*705C>A
ENST00000679838.1:c.*1835C>A (COLQ)	ENSP00000505708.1:n.*1835C>A
ENST00000680545.1:n.1839C>A (COLQ)
ENST00000680897.1:n.1538C>A (COLQ)
ENST00000681097.1:c.*1087C>A (COLQ)	ENSP00000505397.1:n.*1087C>A
ENST00000681222.1:n.5564C>A (COLQ)
ENST00000383781.8:c.*705C>A (COLQ)	ENSP00000373291.3:n.*705C>A
ENST00000383788.9:c.*705C>A (COLQ)	ENSP00000373298.3:n.*705C>A
NM_005677.3:c.*705C>A (COLQ)	NP_005668.2:n.*705C>A
NM_080538.2:c.*705C>A (COLQ)	NP_536799.1:n.*705C>A
NM_080539.3:c.*705C>A (COLQ)	NP_536800.2:n.*705C>A
NM_005677.4:c.*705C>A (COLQ) MANE Select	NP_005668.2:n.*705C>A
NM_080539.4:c.*705C>A (COLQ)	NP_536800.2:n.*705C>A