Canonical Allele Identifier: CA70598932

Gene: EAF1-AS1 COLQ EAF1

Linked Data

• dbSNP Id: rs938466659
• gnomAD v4: 3-15450582-G-T
• MyVariant Identifiers: chr3:g.15492089G>T (hg19) ; chr3:g.15450582G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.15450582G>T , CM000665.2:g.15450582G>T	GRCh38
NC_000003.11:g.15492089G>T , CM000665.1:g.15492089G>T	GRCh37
NC_000003.10:g.15467093G>T	NCBI36
NG_009032.1:g.76170C>A
NG_009032.2:g.76170C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000608408.2:n.398+863C>A (EAF1-AS1)
ENST00000626521.1:n.55+863C>A (EAF1-AS1)
ENST00000629729.3:c.414+863C>A	ENSP00000518887.1:n.414+863C>A
ENST00000383788.10:c.*1062C>A (COLQ) MANE Select	ENSP00000373298.3:n.*1062C>A
ENST00000679838.1:c.*2192C>A (COLQ)	ENSP00000505708.1:n.*2192C>A
ENST00000680545.1:n.2196C>A (COLQ)
ENST00000680897.1:n.1895C>A (COLQ)
ENST00000681097.1:c.*1444C>A (COLQ)	ENSP00000505397.1:n.*1444C>A
ENST00000681222.1:n.5921C>A (COLQ)
ENST00000383781.8:c.*1062C>A (COLQ)	ENSP00000373291.3:n.*1062C>A
ENST00000383788.9:c.*1062C>A (COLQ)	ENSP00000373298.3:n.*1062C>A
ENST00000603752.1:n.298C>A (COLQ)
ENST00000617675.1:n.503G>T (EAF1)
NM_005677.3:c.*1062C>A (COLQ)	NP_005668.2:n.*1062C>A
NM_080538.2:c.*1062C>A (COLQ)	NP_536799.1:n.*1062C>A
NM_080539.3:c.*1062C>A (COLQ)	NP_536800.2:n.*1062C>A
NM_005677.4:c.*1062C>A (COLQ) MANE Select	NP_005668.2:n.*1062C>A
NM_080539.4:c.*1062C>A (COLQ)	NP_536800.2:n.*1062C>A