Canonical Allele Identifier: CA10603201

Gene: KCNQ1

Linked Data

• ClinVar Variation Id: 280173
• ClinVar RCV Id: RCV000289174 ; RCV003319344
• dbSNP Id: rs199473457
• MyVariant Identifiers: chr11:g.2593250C>A (hg19) ; chr11:g.2572020C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2572020C>A , CM000673.2:g.2572020C>A	GRCh38
NC_000011.9:g.2593250C>A , CM000673.1:g.2593250C>A	GRCh37
NC_000011.8:g.2549826C>A	NCBI36
NG_008935.1:g.132030C>A , LRG_287:g.132030C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.430C>A	ENSP00000434560.2:p.Arg144Ser
ENST00000646564.2:c.478-11415C>A	ENSP00000495806.2:n.478-11415C>A
ENST00000155840.12:c.691C>A MANE Select	ENSP00000155840.2:p.Arg231Ser
ENST00000335475.6:c.310C>A	ENSP00000334497.5:p.Arg104Ser
ENST00000646564.1:c.124-11415C>A	ENSP00000495806.1:n.124-11415C>A
ENST00000155840.9:c.691C>A	ENSP00000155840.2:p.Arg231Ser
ENST00000335475.5:c.310C>A	ENSP00000334497.5:p.Arg104Ser
ENST00000496887.6:c.430C>A	ENSP00000434560.1:p.Arg144Ser
NM_000218.2:c.691C>A , LRG_287t1:c.691C>A	NP_000209.2:p.Arg231Ser
NM_181798.1:c.310C>A , LRG_287t2:c.310C>A	NP_861463.1:p.Arg104Ser
NM_000218.3:c.691C>A MANE Select	NP_000209.2:p.Arg231Ser