Canonical Allele Identifier: CA2503083333
Gene: KCNQ1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2463537C>A , CM000673.2:g.2463537C>A GRCh38
NC_000011.9:g.2484767C>A , CM000673.1:g.2484767C>A GRCh37
NC_000011.8:g.2441343C>A NCBI36
NG_008935.1:g.23547C>A , LRG_287:g.23547C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000380776.5:n.91+1560C>A
ENST00000496887.7:c.125+18053C>A ENSP00000434560.2:n.125+18053C>A
ENST00000646564.2:c.386+18053C>A ENSP00000495806.2:n.386+18053C>A
ENST00000155840.12:c.386+18053C>A MANE Select ENSP00000155840.2:n.386+18053C>A
ENST00000335475.6:c.5+1823C>A ENSP00000334497.5:n.5+1823C>A
ENST00000646564.1:c.32+18053C>A ENSP00000495806.1:n.32+18053C>A
ENST00000155840.9:c.386+18053C>A ENSP00000155840.2:n.386+18053C>A
ENST00000335475.5:c.5+1823C>A ENSP00000334497.5:n.5+1823C>A
ENST00000345015.4:n.163+18053C>A
ENST00000380776.4:c.84+1560C>A ENSP00000370153.4:n.84+1560C>A
ENST00000496887.6:c.125+18053C>A ENSP00000434560.1:n.125+18053C>A
NM_000218.2:c.386+18053C>A , LRG_287t1:c.386+18053C>A NP_000209.2:n.386+18053C>A
NM_181798.1:c.5+1823C>A , LRG_287t2:c.5+1823C>A NP_861463.1:n.5+1823C>A
NM_000218.3:c.386+18053C>A MANE Select NP_000209.2:n.386+18053C>A