Canonical Allele Identifier: CA675202374
Gene: KCNQ1 HGNC NCBI
KCNQ1-AS1 HGNC NCBI

Linked Data

dbSNP Id: rs1176565097
gnomAD v4: 11-2848423-AAT-A
MyVariant Identifiers: chr11:g.2869654_2869655del (hg19) chr11:g.2848424_2848425del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2848424_2848425del , CM000673.2:g.2848424_2848425del GRCh38
NC_000011.9:g.2869654_2869655del , CM000673.1:g.2869654_2869655del GRCh37
NC_000011.8:g.2826230_2826231del NCBI36
NG_008935.1:g.408434_408435del , LRG_287:g.408434_408435del

Transcript Alleles

HGVS Amino-acid Change
ENST00000496887.7:c.*421_*422del (KCNQ1) ENSP00000434560.2:n.*421_*422del
ENST00000155840.12:c.*421_*422del (KCNQ1) MANE Select ENSP00000155840.2:n.*421_*422del
ENST00000335475.6:c.*421_*422del (KCNQ1) ENSP00000334497.5:n.*421_*422del
ENST00000155840.9:c.*421_*422del (KCNQ1) ENSP00000155840.2:n.*421_*422del
ENST00000526095.1:n.959_960del (KCNQ1)
NM_000218.2:c.*421_*422del , LRG_287t1:c.*421_*422del (KCNQ1) NP_000209.2:n.*421_*422del
NM_181798.1:c.*421_*422del , LRG_287t2:c.*421_*422del (KCNQ1) NP_861463.1:n.*421_*422del
NR_130721.1:n.778-7983_778-7982del (KCNQ1-AS1)
NM_000218.3:c.*421_*422del (KCNQ1) MANE Select NP_000209.2:n.*421_*422del
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