Canonical Allele Identifier: CA008246

Gene: KCNQ1

Linked Data

• ClinVar Variation Id: 53106
• ClinVar RCV Id: RCV000057762 ; RCV000182115
• dbSNP Id: rs199472724
• MyVariant Identifiers: chr11:g.2594089C>T (hg19) ; chr11:g.2572859C>T (hg38)
• PubMed: PMID:17905336 ; PMID:19808498 ; PMID:22581653

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2572859C>T , CM000673.2:g.2572859C>T	GRCh38
NC_000011.9:g.2594089C>T , CM000673.1:g.2594089C>T	GRCh37
NC_000011.8:g.2550665C>T	NCBI36
NG_008935.1:g.132869C>T , LRG_287:g.132869C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.533C>T	ENSP00000434560.2:p.Thr178Ile
ENST00000646564.2:c.478-10576C>T	ENSP00000495806.2:n.478-10576C>T
ENST00000155840.12:c.794C>T MANE Select	ENSP00000155840.2:p.Thr265Ile
ENST00000335475.6:c.413C>T	ENSP00000334497.5:p.Thr138Ile
ENST00000646564.1:c.124-10576C>T	ENSP00000495806.1:n.124-10576C>T
ENST00000155840.9:c.794C>T	ENSP00000155840.2:p.Thr265Ile
ENST00000335475.5:c.413C>T	ENSP00000334497.5:p.Thr138Ile
ENST00000496887.6:c.533C>T	ENSP00000434560.1:p.Thr178Ile
NM_000218.2:c.794C>T , LRG_287t1:c.794C>T	NP_000209.2:p.Thr265Ile
NM_181798.1:c.413C>T , LRG_287t2:c.413C>T	NP_861463.1:p.Thr138Ile
NM_000218.3:c.794C>T MANE Select	NP_000209.2:p.Thr265Ile