Canonical Allele Identifier: CA379131265

Gene: KCNQ1

Linked Data

• ClinVar Variation Id: 2181135
• ClinVar RCV Id: RCV002603171
• MyVariant Identifiers: chr11:g.2594082A>G (hg19) ; chr11:g.2572852A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2572852A>G , CM000673.2:g.2572852A>G	GRCh38
NC_000011.9:g.2594082A>G , CM000673.1:g.2594082A>G	GRCh37
NC_000011.8:g.2550658A>G	NCBI36
NG_008935.1:g.132862A>G , LRG_287:g.132862A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.526A>G	ENSP00000434560.2:p.Ile176Val
ENST00000646564.2:c.478-10583A>G	ENSP00000495806.2:n.478-10583A>G
ENST00000155840.12:c.787A>G MANE Select	ENSP00000155840.2:p.Ile263Val
ENST00000335475.6:c.406A>G	ENSP00000334497.5:p.Ile136Val
ENST00000646564.1:c.124-10583A>G	ENSP00000495806.1:n.124-10583A>G
ENST00000155840.9:c.787A>G	ENSP00000155840.2:p.Ile263Val
ENST00000335475.5:c.406A>G	ENSP00000334497.5:p.Ile136Val
ENST00000496887.6:c.526A>G	ENSP00000434560.1:p.Ile176Val
NM_000218.2:c.787A>G , LRG_287t1:c.787A>G	NP_000209.2:p.Ile263Val
NM_181798.1:c.406A>G , LRG_287t2:c.406A>G	NP_861463.1:p.Ile136Val
NM_000218.3:c.787A>G MANE Select	NP_000209.2:p.Ile263Val