Canonical Allele Identifier: CA2574728097
Gene: KCNQ1 HGNC NCBI

Linked Data

gnomAD v4: 11-2527859-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2527859C>A , CM000673.2:g.2527859C>A GRCh38
NC_000011.9:g.2549089C>A , CM000673.1:g.2549089C>A GRCh37
NC_000011.8:g.2505665C>A NCBI36
NG_008935.1:g.87869C>A , LRG_287:g.87869C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000380776.5:n.184-69C>A
ENST00000496887.7:c.126-69C>A ENSP00000434560.2:n.126-69C>A
ENST00000646564.2:c.387-69C>A ENSP00000495806.2:n.387-69C>A
ENST00000155840.12:c.387-69C>A MANE Select ENSP00000155840.2:n.387-69C>A
ENST00000335475.6:c.6-69C>A ENSP00000334497.5:n.6-69C>A
ENST00000646564.1:c.33-69C>A ENSP00000495806.1:n.33-69C>A
ENST00000155840.9:c.387-69C>A ENSP00000155840.2:n.387-69C>A
ENST00000335475.5:c.6-69C>A ENSP00000334497.5:n.6-69C>A
ENST00000345015.4:n.256-69C>A
ENST00000380776.4:c.177-69C>A ENSP00000370153.4:n.177-69C>A
ENST00000496887.6:c.126-69C>A ENSP00000434560.1:n.126-69C>A
NM_000218.2:c.387-69C>A , LRG_287t1:c.387-69C>A NP_000209.2:n.387-69C>A
NM_181798.1:c.6-69C>A , LRG_287t2:c.6-69C>A NP_861463.1:n.6-69C>A
NM_000218.3:c.387-69C>A MANE Select NP_000209.2:n.387-69C>A