Canonical Allele Identifier: CA1347573587

Gene: EAF1-AS1 COLQ EAF1

Linked Data

• dbSNP Id: rs2061927278

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.15450566A>C , CM000665.2:g.15450566A>C	GRCh38
NC_000003.11:g.15492073A>C , CM000665.1:g.15492073A>C	GRCh37
NC_000003.10:g.15467077A>C	NCBI36
NG_009032.1:g.76186T>G
NG_009032.2:g.76186T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000608408.2:n.398+879T>G (EAF1-AS1)
ENST00000626521.1:n.55+879T>G (EAF1-AS1)
ENST00000629729.3:c.414+879T>G	ENSP00000518887.1:n.414+879T>G
ENST00000383788.10:c.*1078T>G (COLQ) MANE Select	ENSP00000373298.3:n.*1078T>G
ENST00000679838.1:c.*2208T>G (COLQ)	ENSP00000505708.1:n.*2208T>G
ENST00000680545.1:n.2212T>G (COLQ)
ENST00000680897.1:n.1911T>G (COLQ)
ENST00000681097.1:c.*1460T>G (COLQ)	ENSP00000505397.1:n.*1460T>G
ENST00000681222.1:n.5937T>G (COLQ)
ENST00000383781.8:c.*1078T>G (COLQ)	ENSP00000373291.3:n.*1078T>G
ENST00000383788.9:c.*1078T>G (COLQ)	ENSP00000373298.3:n.*1078T>G
ENST00000603752.1:n.314T>G (COLQ)
ENST00000617675.1:n.487A>C (EAF1)
NM_005677.3:c.*1078T>G (COLQ)	NP_005668.2:n.*1078T>G
NM_080538.2:c.*1078T>G (COLQ)	NP_536799.1:n.*1078T>G
NM_080539.3:c.*1078T>G (COLQ)	NP_536800.2:n.*1078T>G
NM_005677.4:c.*1078T>G (COLQ) MANE Select	NP_005668.2:n.*1078T>G
NM_080539.4:c.*1078T>G (COLQ)	NP_536800.2:n.*1078T>G