Canonical Allele Identifier: CA2790193715
Gene: KCNQ1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2444897G>T , CM000673.2:g.2444897G>T GRCh38
NC_000011.9:g.2466127G>T , CM000673.1:g.2466127G>T GRCh37
NC_000011.8:g.2422703G>T NCBI36
NG_008935.1:g.4907G>T , LRG_287:g.4907G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000496887.7:c.23+189G>T ENSP00000434560.2:n.23+189G>T
ENST00000496887.6:c.23+189G>T ENSP00000434560.1:n.23+189G>T
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