Canonical Allele Identifier: CA008966
Gene: KCNQ1 HGNC NCBI

Linked Data

ClinVar Variation Id: 200893
ClinVar RCV Id: RCV000182296
dbSNP Id: rs794728567
MyVariant Identifiers: chr11:g.2604712G>A (hg19) chr11:g.2583482G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2583482G>A , CM000673.2:g.2583482G>A GRCh38
NC_000011.9:g.2604712G>A , CM000673.1:g.2604712G>A GRCh37
NC_000011.8:g.2561288G>A NCBI36
NG_008935.1:g.143492G>A , LRG_287:g.143492G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000496887.7:c.708G>A ENSP00000434560.2:p.Trp236Ter
ENST00000646564.2:c.525G>A ENSP00000495806.2:p.Trp175Ter
ENST00000155840.12:c.969G>A MANE Select ENSP00000155840.2:p.Trp323Ter
ENST00000335475.6:c.588G>A ENSP00000334497.5:p.Trp196Ter
ENST00000646564.1:c.171G>A ENSP00000495806.1:p.Trp57Ter
ENST00000155840.9:c.969G>A ENSP00000155840.2:p.Trp323Ter
ENST00000335475.5:c.588G>A ENSP00000334497.5:p.Trp196Ter
NM_000218.2:c.969G>A , LRG_287t1:c.969G>A NP_000209.2:p.Trp323Ter
NM_181798.1:c.588G>A , LRG_287t2:c.588G>A NP_861463.1:p.Trp196Ter
NM_000218.3:c.969G>A MANE Select NP_000209.2:p.Trp323Ter
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