Canonical Allele Identifier: CA008744

Gene: KCNQ1

Linked Data

• ClinVar Variation Id: 67125
• ClinVar RCV Id: RCV000057806
• dbSNP Id: rs199473469
• MyVariant Identifiers: chr11:g.2604674A>G (hg19) ; chr11:g.2583444A>G (hg38)
• PubMed: PMID:20541041 ; PMID:22581653

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2583444A>G , CM000673.2:g.2583444A>G	GRCh38
NC_000011.9:g.2604674A>G , CM000673.1:g.2604674A>G	GRCh37
NC_000011.8:g.2561250A>G	NCBI36
NG_008935.1:g.143454A>G , LRG_287:g.143454A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000496887.7:c.670A>G	ENSP00000434560.2:p.Thr224Ala
ENST00000646564.2:c.487A>G	ENSP00000495806.2:p.Thr163Ala
ENST00000155840.12:c.931A>G MANE Select	ENSP00000155840.2:p.Thr311Ala
ENST00000335475.6:c.550A>G	ENSP00000334497.5:p.Thr184Ala
ENST00000646564.1:c.133A>G	ENSP00000495806.1:p.Thr45Ala
ENST00000155840.9:c.931A>G	ENSP00000155840.2:p.Thr311Ala
ENST00000335475.5:c.550A>G	ENSP00000334497.5:p.Thr184Ala
NM_000218.2:c.931A>G , LRG_287t1:c.931A>G	NP_000209.2:p.Thr311Ala
NM_181798.1:c.550A>G , LRG_287t2:c.550A>G	NP_861463.1:p.Thr184Ala
NM_000218.3:c.931A>G MANE Select	NP_000209.2:p.Thr311Ala