Canonical Allele Identifier: CA597114554
Gene: KCNQ1 HGNC NCBI
KCNQ1-AS1 HGNC NCBI

Linked Data

dbSNP Id: rs1444030905
gnomAD v2: 11-2870276-CACAG-C
gnomAD v4: 11-2849046-CACAG-C
MyVariant Identifiers: chr11:g.2870277_2870280del (hg19) chr11:g.2849047_2849050del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2849051_2849054del , CM000673.2:g.2849051_2849054del GRCh38
NC_000011.9:g.2870281_2870284del , CM000673.1:g.2870281_2870284del GRCh37
NC_000011.8:g.2826857_2826860del NCBI36
NG_008935.1:g.409061_409064del , LRG_287:g.409061_409064del

Transcript Alleles

HGVS Amino-acid Change
ENST00000155840.12:c.*1048_*1051del (KCNQ1) MANE Select ENSP00000155840.2:n.*1048_*1051del
ENST00000155840.9:c.*1048_*1051del (KCNQ1) ENSP00000155840.2:n.*1048_*1051del
NM_000218.2:c.*1048_*1051del , LRG_287t1:c.*1048_*1051del (KCNQ1) NP_000209.2:n.*1048_*1051del
NM_181798.1:c.*1048_*1051del , LRG_287t2:c.*1048_*1051del (KCNQ1) NP_861463.1:n.*1048_*1051del
NR_130721.1:n.778-8608_778-8605del (KCNQ1-AS1)
NM_000218.3:c.*1048_*1051del (KCNQ1) MANE Select NP_000209.2:n.*1048_*1051del
Search 100 bp 5'
Search 100 bp 3'