Canonical Allele Identifier: CA1948160533
Gene: KCNQ1 HGNC NCBI

Linked Data

dbSNP Id: rs1846012562
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2445005A>C , CM000673.2:g.2445005A>C GRCh38
NC_000011.9:g.2466235A>C , CM000673.1:g.2466235A>C GRCh37
NC_000011.8:g.2422811A>C NCBI36
NG_008935.1:g.5015A>C , LRG_287:g.5015A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000496887.7:c.23+297A>C ENSP00000434560.2:n.23+297A>C
ENST00000155840.9:c.-94A>C ENSP00000155840.2:n.-94A>C
ENST00000496887.6:c.23+297A>C ENSP00000434560.1:n.23+297A>C
NM_000218.2:c.-94A>C , LRG_287t1:c.-94A>C NP_000209.2:n.-94A>C
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