Canonical Allele Identifier: CA034870
Gene: KCNQ1 HGNC NCBI
KCNQ1-AS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 879136
ClinVar RCV Id: RCV001106351 RCV001106350 RCV001106348 RCV001106349
dbSNP Id: rs765204255
ExAC: 11:2869523 A / G
gnomAD v2: 11-2869523-A-G
gnomAD v3: 11-2848293-A-G
gnomAD v4: 11-2848293-A-G
MyVariant Identifiers: chr11:g.2869523A>G (hg19) chr11:g.2848293A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2848293A>G , CM000673.2:g.2848293A>G GRCh38
NC_000011.9:g.2869523A>G , CM000673.1:g.2869523A>G GRCh37
NC_000011.8:g.2826099A>G NCBI36
NG_008935.1:g.408303A>G , LRG_287:g.408303A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000496887.7:c.*290A>G (KCNQ1) ENSP00000434560.2:n.*290A>G
ENST00000155840.12:c.*290A>G (KCNQ1) MANE Select ENSP00000155840.2:n.*290A>G
ENST00000335475.6:c.*290A>G (KCNQ1) ENSP00000334497.5:n.*290A>G
ENST00000526095.2:c.*290A>G (KCNQ1) ENSP00000494939.1:n.*290A>G
ENST00000155840.9:c.*290A>G (KCNQ1) ENSP00000155840.2:n.*290A>G
ENST00000526095.1:n.828A>G (KCNQ1)
NM_000218.2:c.*290A>G , LRG_287t1:c.*290A>G (KCNQ1) NP_000209.2:n.*290A>G
NM_181798.1:c.*290A>G , LRG_287t2:c.*290A>G (KCNQ1) NP_861463.1:n.*290A>G
NR_130721.1:n.778-7851T>C (KCNQ1-AS1)
NM_000218.3:c.*290A>G (KCNQ1) MANE Select NP_000209.2:n.*290A>G
Search 100 bp 5'
Search 100 bp 3'