Canonical Allele Identifier: CA934454360
Gene: KCNQ1 HGNC NCBI

Linked Data

gnomAD v3: 11-2444703-A-C
gnomAD v4: 11-2444703-A-C
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2444703A>C , CM000673.2:g.2444703A>C GRCh38
NC_000011.9:g.2465933A>C , CM000673.1:g.2465933A>C GRCh37
NC_000011.8:g.2422509A>C NCBI36
NG_008935.1:g.4713A>C , LRG_287:g.4713A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000496887.7:c.18A>C ENSP00000434560.2:p.Leu6=
ENST00000496887.6:c.18A>C ENSP00000434560.1:p.Leu6=
Search 100 bp 5'
Search 100 bp 3'