Canonical Allele Identifier: CA008615
Gene: KCNQ1 HGNC NCBI

Linked Data

ClinVar Variation Id: 53124
ClinVar RCV Id: RCV000046150 RCV000254708 RCV000619717 RCV000826193 RCV001841658 RCV002496704
dbSNP Id: rs120074186
ExAC: 11:2594209 G / A
gnomAD v2: 11-2594209-G-A
gnomAD v3: 11-2572979-G-A
gnomAD v4: 11-2572979-G-A
MyVariant Identifiers: chr11:g.2594209G>A (hg19) chr11:g.2572979G>A (hg38)
PubMed: PMID:12702160 PMID:19716085 PMID:19841298 PMID:23124029
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2572979G>A , CM000673.2:g.2572979G>A GRCh38
NC_000011.9:g.2594209G>A , CM000673.1:g.2594209G>A GRCh37
NC_000011.8:g.2550785G>A NCBI36
NG_008935.1:g.132989G>A , LRG_287:g.132989G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000496887.7:c.653G>A ENSP00000434560.2:p.Trp218Ter
ENST00000646564.2:c.478-10456G>A ENSP00000495806.2:n.478-10456G>A
ENST00000155840.12:c.914G>A MANE Select ENSP00000155840.2:p.Trp305Ter
ENST00000335475.6:c.533G>A ENSP00000334497.5:p.Trp178Ter
ENST00000646564.1:c.124-10456G>A ENSP00000495806.1:n.124-10456G>A
ENST00000155840.9:c.914G>A ENSP00000155840.2:p.Trp305Ter
ENST00000335475.5:c.533G>A ENSP00000334497.5:p.Trp178Ter
NM_000218.2:c.914G>A , LRG_287t1:c.914G>A NP_000209.2:p.Trp305Ter
NM_181798.1:c.533G>A , LRG_287t2:c.533G>A NP_861463.1:p.Trp178Ter
NM_000218.3:c.914G>A MANE Select NP_000209.2:p.Trp305Ter
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