Canonical Allele Identifier: CA1948229427
Gene: KCNQ1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2585364C= , CM000673.2:g.2585364C= GRCh38
NC_000011.9:g.2606594C= , CM000673.1:g.2606594C= GRCh37
NC_000011.8:g.2563170C= NCBI36
NG_008935.1:g.145374C= , LRG_287:g.145374C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000496887.7:c.771+1819C= ENSP00000434560.2:n.771+1819C=
ENST00000646564.2:c.588+1819C= ENSP00000495806.2:n.588+1819C=
ENST00000155840.12:c.1128+57C= MANE Select ENSP00000155840.2:n.1128+57C=
ENST00000335475.6:c.747+57C= ENSP00000334497.5:n.747+57C=
ENST00000646564.1:c.234+1819C= ENSP00000495806.1:n.234+1819C=
ENST00000155840.9:c.1128+57C= ENSP00000155840.2:n.1128+57C=
ENST00000335475.5:c.747+57C= ENSP00000334497.5:n.747+57C=
NM_000218.2:c.1128+57C= , LRG_287t1:c.1128+57C= NP_000209.2:n.1128+57C=
NM_181798.1:c.747+57C= , LRG_287t2:c.747+57C= NP_861463.1:n.747+57C=
NM_000218.3:c.1128+57C= MANE Select NP_000209.2:n.1128+57C=
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