Canonical Allele Identifier: CA2664659688
Gene: EAF1-AS1 HGNC NCBI
COLQ HGNC NCBI

Linked Data

gnomAD v4: 3-15450663-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.15450663C>A , CM000665.2:g.15450663C>A GRCh38
NC_000003.11:g.15492170C>A , CM000665.1:g.15492170C>A GRCh37
NC_000003.10:g.15467174C>A NCBI36
NG_009032.1:g.76089G>T
NG_009032.2:g.76089G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000608408.2:n.398+782G>T (EAF1-AS1)
ENST00000626521.1:n.55+782G>T (EAF1-AS1)
ENST00000629729.3:c.414+782G>T ENSP00000518887.1:n.414+782G>T
ENST00000383788.10:c.*981G>T (COLQ) MANE Select ENSP00000373298.3:n.*981G>T
ENST00000679838.1:c.*2111G>T (COLQ) ENSP00000505708.1:n.*2111G>T
ENST00000680545.1:n.2115G>T (COLQ)
ENST00000680897.1:n.1814G>T (COLQ)
ENST00000681097.1:c.*1363G>T (COLQ) ENSP00000505397.1:n.*1363G>T
ENST00000681222.1:n.5840G>T (COLQ)
ENST00000383781.8:c.*981G>T (COLQ) ENSP00000373291.3:n.*981G>T
ENST00000383788.9:c.*981G>T (COLQ) ENSP00000373298.3:n.*981G>T
ENST00000603752.1:n.217G>T (COLQ)
NM_005677.3:c.*981G>T (COLQ) NP_005668.2:n.*981G>T
NM_080538.2:c.*981G>T (COLQ) NP_536799.1:n.*981G>T
NM_080539.3:c.*981G>T (COLQ) NP_536800.2:n.*981G>T
NM_005677.4:c.*981G>T (COLQ) MANE Select NP_005668.2:n.*981G>T
NM_080539.4:c.*981G>T (COLQ) NP_536800.2:n.*981G>T