Canonical Allele Identifier: CA674857944
Gene: KCNQ1 HGNC NCBI

Linked Data

dbSNP Id: rs1397124661
gnomAD v3: 11-2445075-G-GC
gnomAD v4: 11-2445075-G-GC
MyVariant Identifiers: chr11:g.2466305_2466306insC (hg19) chr11:g.2445075_2445076insC (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2445081dup , CM000673.2:g.2445081dup GRCh38
NC_000011.9:g.2466311dup , CM000673.1:g.2466311dup GRCh37
NC_000011.8:g.2422887dup NCBI36
NG_008935.1:g.5091dup , LRG_287:g.5091dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000496887.7:c.24-302dup ENSP00000434560.2:n.24-302dup
ENST00000646564.2:c.-18dup ENSP00000495806.2:n.-18dup
ENST00000155840.12:c.-18dup MANE Select ENSP00000155840.2:n.-18dup
ENST00000155840.9:c.-18dup ENSP00000155840.2:n.-18dup
ENST00000496887.6:c.24-302dup ENSP00000434560.1:n.24-302dup
NM_000218.2:c.-18dup , LRG_287t1:c.-18dup NP_000209.2:n.-18dup
NM_000218.3:c.-18dup MANE Select NP_000209.2:n.-18dup
Search 100 bp 5'
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