Canonical Allele Identifier: CA005889

Gene: KCNQ1

Linked Data

• ClinVar Variation Id: 52991
• ClinVar RCV Id: RCV000045995 ; RCV000057592 ; RCV000735257 ; RCV004017348
• dbSNP Id: rs17215500
• MyVariant Identifiers: chr11:g.2790111C>G (hg19) ; chr11:g.2768881C>G (hg38)
• PubMed: PMID:16414944 ; PMID:22581653

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2768881C>G , CM000673.2:g.2768881C>G	GRCh38
NC_000011.9:g.2790111C>G , CM000673.1:g.2790111C>G	GRCh37
NC_000011.8:g.2746687C>G	NCBI36
NG_008935.1:g.328891C>G , LRG_287:g.328891C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.1195C>G	ENSP00000434560.2:p.Arg399Gly
ENST00000646564.2:c.1012C>G	ENSP00000495806.2:p.Arg338Gly
ENST00000155840.12:c.1552C>G MANE Select	ENSP00000155840.2:p.Arg518Gly
ENST00000335475.6:c.1171C>G	ENSP00000334497.5:p.Arg391Gly
ENST00000646564.1:c.658C>G	ENSP00000495806.1:p.Arg220Gly
ENST00000155840.9:c.1552C>G	ENSP00000155840.2:p.Arg518Gly
ENST00000335475.5:c.1171C>G	ENSP00000334497.5:p.Arg391Gly
NM_000218.2:c.1552C>G , LRG_287t1:c.1552C>G	NP_000209.2:p.Arg518Gly
NM_181798.1:c.1171C>G , LRG_287t2:c.1171C>G	NP_861463.1:p.Arg391Gly
NM_000218.3:c.1552C>G MANE Select	NP_000209.2:p.Arg518Gly