Canonical Allele Identifier: CA008191

Gene: KCNQ1

Linked Data

• ClinVar Variation Id: 53102
• ClinVar RCV Id: RCV000057757 ; RCV000182114 ; RCV001390400 ; RCV002408549
• dbSNP Id: rs199472720
• gnomAD v4: 11-2572105-G-T
• MyVariant Identifiers: chr11:g.2593335G>T (hg19) ; chr11:g.2572105G>T (hg38)
• PubMed: PMID:15466642 ; PMID:15840476 ; PMID:18752142 ; PMID:19716085 ; PMID:19841300 ; PMID:22581653

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2572105G>T , CM000673.2:g.2572105G>T	GRCh38
NC_000011.9:g.2593335G>T , CM000673.1:g.2593335G>T	GRCh37
NC_000011.8:g.2549911G>T	NCBI36
NG_008935.1:g.132115G>T , LRG_287:g.132115G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.515G>T	ENSP00000434560.2:p.Arg172Leu
ENST00000646564.2:c.478-11330G>T	ENSP00000495806.2:n.478-11330G>T
ENST00000155840.12:c.776G>T MANE Select	ENSP00000155840.2:p.Arg259Leu
ENST00000335475.6:c.395G>T	ENSP00000334497.5:p.Arg132Leu
ENST00000646564.1:c.124-11330G>T	ENSP00000495806.1:n.124-11330G>T
ENST00000155840.9:c.776G>T	ENSP00000155840.2:p.Arg259Leu
ENST00000335475.5:c.395G>T	ENSP00000334497.5:p.Arg132Leu
ENST00000496887.6:c.515G>T	ENSP00000434560.1:p.Arg172Leu
NM_000218.2:c.776G>T , LRG_287t1:c.776G>T	NP_000209.2:p.Arg259Leu
NM_181798.1:c.395G>T , LRG_287t2:c.395G>T	NP_861463.1:p.Arg132Leu
NM_000218.3:c.776G>T MANE Select	NP_000209.2:p.Arg259Leu