Canonical Allele Identifier: CA033274
Gene: KCNQ1 HGNC NCBI
KCNQ1-AS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 519273
ClinVar RCV Id: RCV000618662 RCV001463968 RCV004533276
dbSNP Id: rs377553748
ExAC: 11:2869029 C / T
gnomAD v2: 11-2869029-C-T
gnomAD v3: 11-2847799-C-T
gnomAD v4: 11-2847799-C-T
MyVariant Identifiers: chr11:g.2869029C>T (hg19) chr11:g.2847799C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2847799C>T , CM000673.2:g.2847799C>T GRCh38
NC_000011.9:g.2869029C>T , CM000673.1:g.2869029C>T GRCh37
NC_000011.8:g.2825605C>T NCBI36
NG_008935.1:g.407809C>T , LRG_287:g.407809C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000496887.7:c.1470C>T (KCNQ1) ENSP00000434560.2:p.Ile490=
ENST00000155840.12:c.1827C>T (KCNQ1) MANE Select ENSP00000155840.2:p.Ile609=
ENST00000335475.6:c.1446C>T (KCNQ1) ENSP00000334497.5:p.Ile482=
ENST00000526095.2:c.231C>T (KCNQ1) ENSP00000494939.1:p.Ile77=
ENST00000155840.9:c.1827C>T (KCNQ1) ENSP00000155840.2:p.Ile609=
ENST00000335475.5:c.1446C>T (KCNQ1) ENSP00000334497.5:p.Ile482=
ENST00000526095.1:n.334C>T (KCNQ1)
NM_000218.2:c.1827C>T , LRG_287t1:c.1827C>T (KCNQ1) NP_000209.2:p.Ile609=
NM_181798.1:c.1446C>T , LRG_287t2:c.1446C>T (KCNQ1) NP_861463.1:p.Ile482=
NR_130721.1:n.778-7357G>A (KCNQ1-AS1)
NM_000218.3:c.1827C>T (KCNQ1) MANE Select NP_000209.2:p.Ile609=
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