Canonical Allele Identifier: CA10575752

Gene: KCNQ1

Linked Data

• ClinVar Variation Id: 207971
• ClinVar RCV Id: RCV000234788
• dbSNP Id: rs794728513
• MyVariant Identifiers: chr11:g.2593317C>G (hg19) ; chr11:g.2572087C>G (hg38)
• PubMed: PMID:27041150 ; PMID:27485560

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2572087C>G , CM000673.2:g.2572087C>G	GRCh38
NC_000011.9:g.2593317C>G , CM000673.1:g.2593317C>G	GRCh37
NC_000011.8:g.2549893C>G	NCBI36
NG_008935.1:g.132097C>G , LRG_287:g.132097C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.497C>G	ENSP00000434560.2:p.Ser166Cys
ENST00000646564.2:c.478-11348C>G	ENSP00000495806.2:n.478-11348C>G
ENST00000155840.12:c.758C>G MANE Select	ENSP00000155840.2:p.Ser253Cys
ENST00000335475.6:c.377C>G	ENSP00000334497.5:p.Ser126Cys
ENST00000646564.1:c.124-11348C>G	ENSP00000495806.1:n.124-11348C>G
ENST00000155840.9:c.758C>G	ENSP00000155840.2:p.Ser253Cys
ENST00000335475.5:c.377C>G	ENSP00000334497.5:p.Ser126Cys
ENST00000496887.6:c.497C>G	ENSP00000434560.1:p.Ser166Cys
NM_000218.2:c.758C>G , LRG_287t1:c.758C>G	NP_000209.2:p.Ser253Cys
NM_181798.1:c.377C>G , LRG_287t2:c.377C>G	NP_861463.1:p.Ser126Cys
NM_000218.3:c.758C>G MANE Select	NP_000209.2:p.Ser253Cys