Canonical Allele Identifier: CA597432419
Gene: KCNQ1 HGNC NCBI

Linked Data

dbSNP Id: rs1397124661
gnomAD v2: 11-2466305-GC-G
gnomAD v4: 11-2445075-GC-G
MyVariant Identifiers: chr11:g.2466306del (hg19) chr11:g.2445076del (hg38)
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Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid change
ENST00000496887.7:c.24-302del ENSP00000434560.2:n.24-302del
ENST00000646564.2:c.-18del ENSP00000495806.2:n.-18del
ENST00000155840.12:c.-18del MANE Select ENSP00000155840.2:n.-18del
ENST00000155840.9:c.-18del ENSP00000155840.2:n.-18del
ENST00000496887.6:c.24-302del ENSP00000434560.1:n.24-302del
NM_000218.2:c.-18del , LRG_287t1:c.-18del NP_000209.2:n.-18del
NM_000218.3:c.-18del MANE Select NP_000209.2:n.-18del
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