Canonical Allele Identifier: CA008035

Gene: KCNQ1

Linked Data

• ClinVar Variation Id: 67101
• ClinVar RCV Id: RCV000057744 ; RCV000182105 ; RCV000631660
• dbSNP Id: rs199473459
• MyVariant Identifiers: chr11:g.2593301T>C (hg19) ; chr11:g.2572071T>C (hg38)
• PubMed: PMID:10409658 ; PMID:10973849 ; PMID:22581653

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2572071T>C , CM000673.2:g.2572071T>C	GRCh38
NC_000011.9:g.2593301T>C , CM000673.1:g.2593301T>C	GRCh37
NC_000011.8:g.2549877T>C	NCBI36
NG_008935.1:g.132081T>C , LRG_287:g.132081T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.481T>C	ENSP00000434560.2:p.Trp161Arg
ENST00000646564.2:c.478-11364T>C	ENSP00000495806.2:n.478-11364T>C
ENST00000155840.12:c.742T>C MANE Select	ENSP00000155840.2:p.Trp248Arg
ENST00000335475.6:c.361T>C	ENSP00000334497.5:p.Trp121Arg
ENST00000646564.1:c.124-11364T>C	ENSP00000495806.1:n.124-11364T>C
ENST00000155840.9:c.742T>C	ENSP00000155840.2:p.Trp248Arg
ENST00000335475.5:c.361T>C	ENSP00000334497.5:p.Trp121Arg
ENST00000496887.6:c.481T>C	ENSP00000434560.1:p.Trp161Arg
NM_000218.2:c.742T>C , LRG_287t1:c.742T>C	NP_000209.2:p.Trp248Arg
NM_181798.1:c.361T>C , LRG_287t2:c.361T>C	NP_861463.1:p.Trp121Arg
NM_000218.3:c.742T>C MANE Select	NP_000209.2:p.Trp248Arg