Canonical Allele Identifier: CA216326870
Gene: KCNQ1 HGNC NCBI

Linked Data

dbSNP Id: rs144653098
gnomAD v2: 11-2604523-G-A
gnomAD v3: 11-2583293-G-A
gnomAD v4: 11-2583293-G-A
COSMIC: COSN23742247
MyVariant Identifiers: chr11:g.2604523G>A (hg19) chr11:g.2583293G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2583293G>A , CM000673.2:g.2583293G>A GRCh38
NC_000011.9:g.2604523G>A , CM000673.1:g.2604523G>A GRCh37
NC_000011.8:g.2561099G>A NCBI36
NG_008935.1:g.143303G>A , LRG_287:g.143303G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000496887.7:c.661-142G>A ENSP00000434560.2:n.661-142G>A
ENST00000646564.2:c.478-142G>A ENSP00000495806.2:n.478-142G>A
ENST00000155840.12:c.922-142G>A MANE Select ENSP00000155840.2:n.922-142G>A
ENST00000335475.6:c.541-142G>A ENSP00000334497.5:n.541-142G>A
ENST00000646564.1:c.124-142G>A ENSP00000495806.1:n.124-142G>A
ENST00000155840.9:c.922-142G>A ENSP00000155840.2:n.922-142G>A
ENST00000335475.5:c.541-142G>A ENSP00000334497.5:n.541-142G>A
NM_000218.2:c.922-142G>A , LRG_287t1:c.922-142G>A NP_000209.2:n.922-142G>A
NM_181798.1:c.541-142G>A , LRG_287t2:c.541-142G>A NP_861463.1:n.541-142G>A
NM_000218.3:c.922-142G>A MANE Select NP_000209.2:n.922-142G>A
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