Canonical Allele Identifier: CA008952

Gene: KCNQ1

Linked Data

• ClinVar Variation Id: 200830
• ClinVar RCV Id: RCV000182148 ; RCV001852304 ; RCV002372112
• dbSNP Id: rs199472755
• MyVariant Identifiers: chr11:g.2604708C>G (hg19) ; chr11:g.2583478C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2583478C>G , CM000673.2:g.2583478C>G	GRCh38
NC_000011.9:g.2604708C>G , CM000673.1:g.2604708C>G	GRCh37
NC_000011.8:g.2561284C>G	NCBI36
NG_008935.1:g.143488C>G , LRG_287:g.143488C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.704C>G	ENSP00000434560.2:p.Thr235Arg
ENST00000646564.2:c.521C>G	ENSP00000495806.2:p.Thr174Arg
ENST00000155840.12:c.965C>G MANE Select	ENSP00000155840.2:p.Thr322Arg
ENST00000335475.6:c.584C>G	ENSP00000334497.5:p.Thr195Arg
ENST00000646564.1:c.167C>G	ENSP00000495806.1:p.Thr56Arg
ENST00000155840.9:c.965C>G	ENSP00000155840.2:p.Thr322Arg
ENST00000335475.5:c.584C>G	ENSP00000334497.5:p.Thr195Arg
NM_000218.2:c.965C>G , LRG_287t1:c.965C>G	NP_000209.2:p.Thr322Arg
NM_181798.1:c.584C>G , LRG_287t2:c.584C>G	NP_861463.1:p.Thr195Arg
NM_000218.3:c.965C>G MANE Select	NP_000209.2:p.Thr322Arg