Canonical Allele Identifier: CA008027

Gene: KCNQ1

Linked Data

• ClinVar Variation Id: 3150
• ClinVar RCV Id: RCV000003300 ; RCV000057743
• dbSNP Id: rs120074196
• MyVariant Identifiers: chr11:g.2593287G>C (hg19) ; chr11:g.2572057G>C (hg38)
• PubMed: PMID:16922724 ; PMID:22581653

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2572057G>C , CM000673.2:g.2572057G>C	GRCh38
NC_000011.9:g.2593287G>C , CM000673.1:g.2593287G>C	GRCh37
NC_000011.8:g.2549863G>C	NCBI36
NG_008935.1:g.132067G>C , LRG_287:g.132067G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.467G>C	ENSP00000434560.2:p.Arg156Pro
ENST00000646564.2:c.478-11378G>C	ENSP00000495806.2:n.478-11378G>C
ENST00000155840.12:c.728G>C MANE Select	ENSP00000155840.2:p.Arg243Pro
ENST00000335475.6:c.347G>C	ENSP00000334497.5:p.Arg116Pro
ENST00000646564.1:c.124-11378G>C	ENSP00000495806.1:n.124-11378G>C
ENST00000155840.9:c.728G>C	ENSP00000155840.2:p.Arg243Pro
ENST00000335475.5:c.347G>C	ENSP00000334497.5:p.Arg116Pro
ENST00000496887.6:c.467G>C	ENSP00000434560.1:p.Arg156Pro
NM_000218.2:c.728G>C , LRG_287t1:c.728G>C	NP_000209.2:p.Arg243Pro
NM_181798.1:c.347G>C , LRG_287t2:c.347G>C	NP_861463.1:p.Arg116Pro
NM_000218.3:c.728G>C MANE Select	NP_000209.2:p.Arg243Pro