Canonical Allele Identifier: CA597098434
Gene: KCNQ1 HGNC NCBI

Linked Data

dbSNP Id: rs1392699141
gnomAD v2: 11-2465946-CG-C
gnomAD v3: 11-2444716-CG-C
gnomAD v4: 11-2444716-CG-C
MyVariant Identifiers: chr11:g.2465947del (hg19) chr11:g.2465949_2465964delinsCGGGGGTGGGGGTGG (hg19) chr11:g.2444717del (hg38) chr11:g.2444719_2444734delinsCGGGGGTGGGGGTGG (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2444719del , CM000673.2:g.2444719del GRCh38
NC_000011.9:g.2465949del , CM000673.1:g.2465949del GRCh37
NC_000011.8:g.2422525del NCBI36
NG_008935.1:g.4729del , LRG_287:g.4729del

Transcript Alleles

HGVS Amino-acid Change
ENST00000496887.7:c.23+11del ENSP00000434560.2:n.23+11del
ENST00000496887.6:c.23+11del ENSP00000434560.1:n.23+11del
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