Canonical Allele Identifier: CA10617520
Gene: EAF1-AS1 HGNC NCBI
COLQ HGNC NCBI
EAF1 HGNC NCBI

Linked Data

ClinVar Variation Id: 343824
ClinVar RCV Id: RCV000332296
dbSNP Id: rs886058093
gnomAD v2: 3-15491859-A-C
gnomAD v3: 3-15450352-A-C
gnomAD v4: 3-15450352-A-C
MyVariant Identifiers: chr3:g.15491859A>C (hg19) chr3:g.15450352A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.15450352A>C , CM000665.2:g.15450352A>C GRCh38
NC_000003.11:g.15491859A>C , CM000665.1:g.15491859A>C GRCh37
NC_000003.10:g.15466863A>C NCBI36
NG_009032.1:g.76400T>G
NG_009032.2:g.76400T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000608408.2:n.398+1093T>G (EAF1-AS1)
ENST00000626521.1:n.55+1093T>G (EAF1-AS1)
ENST00000629729.3:c.414+1093T>G ENSP00000518887.1:n.414+1093T>G
ENST00000383788.10:c.*1292T>G (COLQ) MANE Select ENSP00000373298.3:n.*1292T>G
ENST00000679838.1:c.*2422T>G (COLQ) ENSP00000505708.1:n.*2422T>G
ENST00000680545.1:n.2426T>G (COLQ)
ENST00000680897.1:n.2125T>G (COLQ)
ENST00000681097.1:c.*1674T>G (COLQ) ENSP00000505397.1:n.*1674T>G
ENST00000681222.1:n.6151T>G (COLQ)
ENST00000383788.9:c.*1292T>G (COLQ) ENSP00000373298.3:n.*1292T>G
ENST00000603752.1:n.398-34T>G (COLQ)
ENST00000617675.1:n.273A>C (EAF1)
NM_005677.3:c.*1292T>G (COLQ) NP_005668.2:n.*1292T>G
NM_080538.2:c.*1292T>G (COLQ) NP_536799.1:n.*1292T>G
NM_080539.3:c.*1292T>G (COLQ) NP_536800.2:n.*1292T>G
NM_005677.4:c.*1292T>G (COLQ) MANE Select NP_005668.2:n.*1292T>G
NM_080539.4:c.*1292T>G (COLQ) NP_536800.2:n.*1292T>G
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