Canonical Allele Identifier: CA1347573594

Gene: EAF1-AS1 COLQ EAF1

Linked Data

• dbSNP Id: rs2061927535
• gnomAD v3: 3-15450590-C-G
• gnomAD v4: 3-15450590-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.15450590C>G , CM000665.2:g.15450590C>G	GRCh38
NC_000003.11:g.15492097C>G , CM000665.1:g.15492097C>G	GRCh37
NC_000003.10:g.15467101C>G	NCBI36
NG_009032.1:g.76162G>C
NG_009032.2:g.76162G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000608408.2:n.398+855G>C (EAF1-AS1)
ENST00000626521.1:n.55+855G>C (EAF1-AS1)
ENST00000629729.3:c.414+855G>C	ENSP00000518887.1:n.414+855G>C
ENST00000383788.10:c.*1054G>C (COLQ) MANE Select	ENSP00000373298.3:n.*1054G>C
ENST00000679838.1:c.*2184G>C (COLQ)	ENSP00000505708.1:n.*2184G>C
ENST00000680545.1:n.2188G>C (COLQ)
ENST00000680897.1:n.1887G>C (COLQ)
ENST00000681097.1:c.*1436G>C (COLQ)	ENSP00000505397.1:n.*1436G>C
ENST00000681222.1:n.5913G>C (COLQ)
ENST00000383781.8:c.*1054G>C (COLQ)	ENSP00000373291.3:n.*1054G>C
ENST00000383788.9:c.*1054G>C (COLQ)	ENSP00000373298.3:n.*1054G>C
ENST00000603752.1:n.290G>C (COLQ)
ENST00000617675.1:n.511C>G (EAF1)
NM_005677.3:c.*1054G>C (COLQ)	NP_005668.2:n.*1054G>C
NM_080538.2:c.*1054G>C (COLQ)	NP_536799.1:n.*1054G>C
NM_080539.3:c.*1054G>C (COLQ)	NP_536800.2:n.*1054G>C
NM_005677.4:c.*1054G>C (COLQ) MANE Select	NP_005668.2:n.*1054G>C
NM_080539.4:c.*1054G>C (COLQ)	NP_536800.2:n.*1054G>C