Canonical Allele Identifier: CA008598

Gene: KCNQ1

Linked Data

• ClinVar Variation Id: 53122
• ClinVar RCV Id: RCV000057794 ; RCV003531945
• dbSNP Id: rs199473466
• MyVariant Identifiers: chr11:g.2594205T>C (hg19) ; chr11:g.2572975T>C (hg38)
• PubMed: PMID:15840476 ; PMID:19841300 ; PMID:22581653

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2572975T>C , CM000673.2:g.2572975T>C	GRCh38
NC_000011.9:g.2594205T>C , CM000673.1:g.2594205T>C	GRCh37
NC_000011.8:g.2550781T>C	NCBI36
NG_008935.1:g.132985T>C , LRG_287:g.132985T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.649T>C	ENSP00000434560.2:p.Trp217Arg
ENST00000646564.2:c.478-10460T>C	ENSP00000495806.2:n.478-10460T>C
ENST00000155840.12:c.910T>C MANE Select	ENSP00000155840.2:p.Trp304Arg
ENST00000335475.6:c.529T>C	ENSP00000334497.5:p.Trp177Arg
ENST00000646564.1:c.124-10460T>C	ENSP00000495806.1:n.124-10460T>C
ENST00000155840.9:c.910T>C	ENSP00000155840.2:p.Trp304Arg
ENST00000335475.5:c.529T>C	ENSP00000334497.5:p.Trp177Arg
NM_000218.2:c.910T>C , LRG_287t1:c.910T>C	NP_000209.2:p.Trp304Arg
NM_181798.1:c.529T>C , LRG_287t2:c.529T>C	NP_861463.1:p.Trp177Arg
NM_000218.3:c.910T>C MANE Select	NP_000209.2:p.Trp304Arg