Canonical Allele Identifier: CA008936

Gene: KCNQ1

Linked Data

• ClinVar Variation Id: 53149
• ClinVar RCV Id: RCV000057829 ; RCV000182147 ; RCV001258360 ; RCV001386679 ; RCV002381344
• dbSNP Id: rs199472754
• MyVariant Identifiers: chr11:g.2604707A>G (hg19) ; chr11:g.2583477A>G (hg38)
• PubMed: PMID:12877697 ; PMID:15466642 ; PMID:15840476 ; PMID:19716085 ; PMID:19841300 ; PMID:22581653

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2583477A>G , CM000673.2:g.2583477A>G	GRCh38
NC_000011.9:g.2604707A>G , CM000673.1:g.2604707A>G	GRCh37
NC_000011.8:g.2561283A>G	NCBI36
NG_008935.1:g.143487A>G , LRG_287:g.143487A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.703A>G	ENSP00000434560.2:p.Thr235Ala
ENST00000646564.2:c.520A>G	ENSP00000495806.2:p.Thr174Ala
ENST00000155840.12:c.964A>G MANE Select	ENSP00000155840.2:p.Thr322Ala
ENST00000335475.6:c.583A>G	ENSP00000334497.5:p.Thr195Ala
ENST00000646564.1:c.166A>G	ENSP00000495806.1:p.Thr56Ala
ENST00000155840.9:c.964A>G	ENSP00000155840.2:p.Thr322Ala
ENST00000335475.5:c.583A>G	ENSP00000334497.5:p.Thr195Ala
NM_000218.2:c.964A>G , LRG_287t1:c.964A>G	NP_000209.2:p.Thr322Ala
NM_181798.1:c.583A>G , LRG_287t2:c.583A>G	NP_861463.1:p.Thr195Ala
NM_000218.3:c.964A>G MANE Select	NP_000209.2:p.Thr322Ala