Canonical Allele Identifier: CA379131260

Gene: KCNQ1

Linked Data

• ClinVar Variation Id: 1686671
• ClinVar RCV Id: RCV002247183 ; RCV003094059
• dbSNP Id: rs1564821090
• MyVariant Identifiers: chr11:g.2594080T>G (hg19) ; chr11:g.2572850T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2572850T>G , CM000673.2:g.2572850T>G	GRCh38
NC_000011.9:g.2594080T>G , CM000673.1:g.2594080T>G	GRCh37
NC_000011.8:g.2550656T>G	NCBI36
NG_008935.1:g.132860T>G , LRG_287:g.132860T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000496887.7:c.524T>G	ENSP00000434560.2:p.Leu175Arg
ENST00000646564.2:c.478-10585T>G	ENSP00000495806.2:n.478-10585T>G
ENST00000155840.12:c.785T>G MANE Select	ENSP00000155840.2:p.Leu262Arg
ENST00000335475.6:c.404T>G	ENSP00000334497.5:p.Leu135Arg
ENST00000646564.1:c.124-10585T>G	ENSP00000495806.1:n.124-10585T>G
ENST00000155840.9:c.785T>G	ENSP00000155840.2:p.Leu262Arg
ENST00000335475.5:c.404T>G	ENSP00000334497.5:p.Leu135Arg
ENST00000496887.6:c.524T>G	ENSP00000434560.1:p.Leu175Arg
NM_000218.2:c.785T>G , LRG_287t1:c.785T>G	NP_000209.2:p.Leu262Arg
NM_181798.1:c.404T>G , LRG_287t2:c.404T>G	NP_861463.1:p.Leu135Arg
NM_000218.3:c.785T>G MANE Select	NP_000209.2:p.Leu262Arg