Canonical Allele Identifier: CA005477
Gene: KCNQ1 HGNC NCBI

Linked Data

ClinVar Variation Id: 67020
ClinVar RCV Id: RCV000057570 RCV000148543 RCV000154657 RCV000394030 RCV000305127 RCV000394039 RCV000306809 RCV001094051 RCV000852645 RCV002336208 RCV001841659
dbSNP Id: rs12720457
ExAC: 11:2608850 G / T
gnomAD v2: 11-2608850-G-T
gnomAD v3: 11-2587620-G-T
gnomAD v4: 11-2587620-G-T
MyVariant Identifiers: chr11:g.2608850G>T (hg19) chr11:g.2587620G>T (hg38)
PubMed: PMID:14661677 PMID:14678125 PMID:16556865 PMID:17161064 PMID:17210839 PMID:17470695 PMID:19841300 PMID:19862833 PMID:22581653 PMID:22949429 PMID:23571586 PMID:23861362
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2587620G>T , CM000673.2:g.2587620G>T GRCh38
NC_000011.9:g.2608850G>T , CM000673.1:g.2608850G>T GRCh37
NC_000011.8:g.2565426G>T NCBI36
NG_008935.1:g.147630G>T , LRG_287:g.147630G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000496887.7:c.822G>T ENSP00000434560.2:p.Lys274Asn
ENST00000646564.2:c.639G>T ENSP00000495806.2:p.Lys213Asn
ENST00000155840.12:c.1179G>T MANE Select ENSP00000155840.2:p.Lys393Asn
ENST00000335475.6:c.798G>T ENSP00000334497.5:p.Lys266Asn
ENST00000646564.1:c.285G>T ENSP00000495806.1:p.Lys95Asn
ENST00000155840.9:c.1179G>T ENSP00000155840.2:p.Lys393Asn
ENST00000335475.5:c.798G>T ENSP00000334497.5:p.Lys266Asn
NM_000218.2:c.1179G>T , LRG_287t1:c.1179G>T NP_000209.2:p.Lys393Asn
NM_181798.1:c.798G>T , LRG_287t2:c.798G>T NP_861463.1:p.Lys266Asn
NM_000218.3:c.1179G>T MANE Select NP_000209.2:p.Lys393Asn
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