Canonical Allele Identifier: CA2664659606

Gene: EAF1-AS1 COLQ EAF1

Linked Data

• gnomAD v4: 3-15450551-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.15450551A>G , CM000665.2:g.15450551A>G	GRCh38
NC_000003.11:g.15492058A>G , CM000665.1:g.15492058A>G	GRCh37
NC_000003.10:g.15467062A>G	NCBI36
NG_009032.1:g.76201T>C
NG_009032.2:g.76201T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000608408.2:n.398+894T>C (EAF1-AS1)
ENST00000626521.1:n.55+894T>C (EAF1-AS1)
ENST00000629729.3:c.414+894T>C	ENSP00000518887.1:n.414+894T>C
ENST00000383788.10:c.*1093T>C (COLQ) MANE Select	ENSP00000373298.3:n.*1093T>C
ENST00000679838.1:c.*2223T>C (COLQ)	ENSP00000505708.1:n.*2223T>C
ENST00000680545.1:n.2227T>C (COLQ)
ENST00000680897.1:n.1926T>C (COLQ)
ENST00000681097.1:c.*1475T>C (COLQ)	ENSP00000505397.1:n.*1475T>C
ENST00000681222.1:n.5952T>C (COLQ)
ENST00000383781.8:c.*1093T>C (COLQ)	ENSP00000373291.3:n.*1093T>C
ENST00000383788.9:c.*1093T>C (COLQ)	ENSP00000373298.3:n.*1093T>C
ENST00000603752.1:n.329T>C (COLQ)
ENST00000617675.1:n.472A>G (EAF1)
NM_005677.3:c.*1093T>C (COLQ)	NP_005668.2:n.*1093T>C
NM_080538.2:c.*1093T>C (COLQ)	NP_536799.1:n.*1093T>C
NM_080539.3:c.*1093T>C (COLQ)	NP_536800.2:n.*1093T>C
NM_005677.4:c.*1093T>C (COLQ) MANE Select	NP_005668.2:n.*1093T>C
NM_080539.4:c.*1093T>C (COLQ)	NP_536800.2:n.*1093T>C