Canonical Allele Identifier: CA2612004102
Gene: KCNQ1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2572790dup , CM000673.2:g.2572790dup GRCh38
NC_000011.9:g.2594020dup , CM000673.1:g.2594020dup GRCh37
NC_000011.8:g.2550596dup NCBI36
NG_008935.1:g.132800dup , LRG_287:g.132800dup

Transcript Alleles

HGVS Amino-acid change
ENST00000496887.7:c.520-56dup ENSP00000434560.2:n.520-56dup
ENST00000646564.2:c.478-10645dup ENSP00000495806.2:n.478-10645dup
ENST00000155840.12:c.781-56dup MANE Select ENSP00000155840.2:n.781-56dup
ENST00000335475.6:c.400-56dup ENSP00000334497.5:n.400-56dup
ENST00000646564.1:c.124-10645dup ENSP00000495806.1:n.124-10645dup
ENST00000155840.9:c.781-56dup ENSP00000155840.2:n.781-56dup
ENST00000335475.5:c.400-56dup ENSP00000334497.5:n.400-56dup
ENST00000496887.6:c.520-56dup ENSP00000434560.1:n.520-56dup
NM_000218.2:c.781-56dup , LRG_287t1:c.781-56dup NP_000209.2:n.781-56dup
NM_181798.1:c.400-56dup , LRG_287t2:c.400-56dup NP_861463.1:n.400-56dup
NM_000218.3:c.781-56dup MANE Select NP_000209.2:n.781-56dup