Canonical Allele Identifier: CA2664659651

Linked Data

gnomAD v4: 3-15450612-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.15450612G>A , CM000665.2:g.15450612G>A GRCh38
NC_000003.11:g.15492119G>A , CM000665.1:g.15492119G>A GRCh37
NC_000003.10:g.15467123G>A NCBI36
NG_009032.1:g.76140C>T
NG_009032.2:g.76140C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000608408.2:n.398+833C>T (EAF1-AS1)
ENST00000626521.1:n.55+833C>T (EAF1-AS1)
ENST00000629729.3:c.414+833C>T ENSP00000518887.1:n.414+833C>T
ENST00000383788.10:c.*1032C>T (COLQ) MANE Select ENSP00000373298.3:n.*1032C>T
ENST00000679838.1:c.*2162C>T (COLQ) ENSP00000505708.1:n.*2162C>T
ENST00000680545.1:n.2166C>T (COLQ)
ENST00000680897.1:n.1865C>T (COLQ)
ENST00000681097.1:c.*1414C>T (COLQ) ENSP00000505397.1:n.*1414C>T
ENST00000681222.1:n.5891C>T (COLQ)
ENST00000383781.8:c.*1032C>T (COLQ) ENSP00000373291.3:n.*1032C>T
ENST00000383788.9:c.*1032C>T (COLQ) ENSP00000373298.3:n.*1032C>T
ENST00000603752.1:n.268C>T (COLQ)
ENST00000617675.1:n.533G>A (EAF1)
NM_005677.3:c.*1032C>T (COLQ) NP_005668.2:n.*1032C>T
NM_080538.2:c.*1032C>T (COLQ) NP_536799.1:n.*1032C>T
NM_080539.3:c.*1032C>T (COLQ) NP_536800.2:n.*1032C>T
NM_005677.4:c.*1032C>T (COLQ) MANE Select NP_005668.2:n.*1032C>T
NM_080539.4:c.*1032C>T (COLQ) NP_536800.2:n.*1032C>T