Canonical Allele Identifier: CA005231

Gene: KCNQ1

Linked Data

• ClinVar Variation Id: 52954
• ClinVar RCV Id: RCV000057549 ; RCV000182172 ; RCV001306051
• dbSNP Id: rs199473408
• MyVariant Identifiers: chr11:g.2606496C>A (hg19) ; chr11:g.2585266C>A (hg38)
• PubMed: PMID:16937190 ; PMID:19862833 ; PMID:22581653

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2585266C>A , CM000673.2:g.2585266C>A	GRCh38
NC_000011.9:g.2606496C>A , CM000673.1:g.2606496C>A	GRCh37
NC_000011.8:g.2563072C>A	NCBI36
NG_008935.1:g.145276C>A , LRG_287:g.145276C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.771+1721C>A	ENSP00000434560.2:n.771+1721C>A
ENST00000646564.2:c.588+1721C>A	ENSP00000495806.2:n.588+1721C>A
ENST00000155840.12:c.1087C>A MANE Select	ENSP00000155840.2:p.His363Asn
ENST00000335475.6:c.706C>A	ENSP00000334497.5:p.His236Asn
ENST00000646564.1:c.234+1721C>A	ENSP00000495806.1:n.234+1721C>A
ENST00000155840.9:c.1087C>A	ENSP00000155840.2:p.His363Asn
ENST00000335475.5:c.706C>A	ENSP00000334497.5:p.His236Asn
NM_000218.2:c.1087C>A , LRG_287t1:c.1087C>A	NP_000209.2:p.His363Asn
NM_181798.1:c.706C>A , LRG_287t2:c.706C>A	NP_861463.1:p.His236Asn
NM_000218.3:c.1087C>A MANE Select	NP_000209.2:p.His363Asn