Canonical Allele Identifier: CA379115605
Gene: KCNQ1 HGNC NCBI

Linked Data

dbSNP Id: rs1327458547
gnomAD v3: 11-2444698-G-A
gnomAD v4: 11-2444698-G-A
MyVariant Identifiers: chr11:g.2465928G>A (hg19) chr11:g.2444698G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2444698G>A , CM000673.2:g.2444698G>A GRCh38
NC_000011.9:g.2465928G>A , CM000673.1:g.2465928G>A GRCh37
NC_000011.8:g.2422504G>A NCBI36
NG_008935.1:g.4708G>A , LRG_287:g.4708G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000496887.7:c.13G>A ENSP00000434560.2:p.Gly5Arg
ENST00000496887.6:c.13G>A ENSP00000434560.1:p.Gly5Arg
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