Canonical Allele Identifier: CA1948310377
Gene: KCNQ1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2769202A= , CM000673.2:g.2769202A= GRCh38
NC_000011.9:g.2790432A= , CM000673.1:g.2790432A= GRCh37
NC_000011.8:g.2747008A= NCBI36
NG_008935.1:g.329212A= , LRG_287:g.329212A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000496887.7:c.1233+283A= ENSP00000434560.2:n.1233+283A=
ENST00000646564.2:c.1050+283A= ENSP00000495806.2:n.1050+283A=
ENST00000155840.12:c.1590+283A= MANE Select ENSP00000155840.2:n.1590+283A=
ENST00000335475.6:c.1209+283A= ENSP00000334497.5:n.1209+283A=
ENST00000646564.1:c.696+283A= ENSP00000495806.1:n.696+283A=
ENST00000155840.9:c.1590+283A= ENSP00000155840.2:n.1590+283A=
ENST00000335475.5:c.1209+283A= ENSP00000334497.5:n.1209+283A=
NM_000218.2:c.1590+283A= , LRG_287t1:c.1590+283A= NP_000209.2:n.1590+283A=
NM_181798.1:c.1209+283A= , LRG_287t2:c.1209+283A= NP_861463.1:n.1209+283A=
NM_000218.3:c.1590+283A= MANE Select NP_000209.2:n.1590+283A=
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