Canonical Allele Identifier: CA007542
Gene: KCNQ1 HGNC NCBI

Linked Data

ClinVar Variation Id: 3117
ClinVar RCV Id: RCV000003264 RCV000046088 RCV000057706 RCV000182086 RCV000588393
dbSNP Id: rs120074178
gnomAD v2: 11-2591949-G-A
gnomAD v3: 11-2570719-G-A
gnomAD v4: 11-2570719-G-A
MyVariant Identifiers: chr11:g.2591949G>A (hg19) chr11:g.2591949_2591954delinsAGCTGC (hg19) chr11:g.2570719G>A (hg38)
PubMed: PMID:8528244 PMID:9386136 PMID:9693036 PMID:10376919 PMID:10728423 PMID:11668638 PMID:12522251 PMID:14678125 PMID:15051636 PMID:15840476 PMID:16414944 PMID:17470695 PMID:19716085 PMID:19841300 PMID:20660394 PMID:21350584 PMID:22456477 PMID:22581653 PMID:22629021 PMID:22949429 PMID:23075154 PMID:27041150 PMID:27311732 PMID:27470144 PMID:27485560
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2570719G>A , CM000673.2:g.2570719G>A GRCh38
NC_000011.9:g.2591949G>A , CM000673.1:g.2591949G>A GRCh37
NC_000011.8:g.2548525G>A NCBI36
NG_008935.1:g.130729G>A , LRG_287:g.130729G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000496887.7:c.308G>A ENSP00000434560.2:p.Arg103Gln
ENST00000646564.2:c.478-12716G>A ENSP00000495806.2:n.478-12716G>A
ENST00000155840.12:c.569G>A MANE Select ENSP00000155840.2:p.Arg190Gln
ENST00000335475.6:c.188G>A ENSP00000334497.5:p.Arg63Gln
ENST00000646564.1:c.124-12716G>A ENSP00000495806.1:n.124-12716G>A
ENST00000155840.9:c.569G>A ENSP00000155840.2:p.Arg190Gln
ENST00000335475.5:c.188G>A ENSP00000334497.5:p.Arg63Gln
ENST00000496887.6:c.308G>A ENSP00000434560.1:p.Arg103Gln
NM_000218.2:c.569G>A , LRG_287t1:c.569G>A NP_000209.2:p.Arg190Gln
NM_181798.1:c.188G>A , LRG_287t2:c.188G>A NP_861463.1:p.Arg63Gln
NM_000218.3:c.569G>A MANE Select NP_000209.2:p.Arg190Gln
Search 100 bp 5'
Search 100 bp 3'