Canonical Allele Identifier: CA005394

Gene: KCNQ1

Linked Data

• ClinVar Variation Id: 52964
• ClinVar RCV Id: RCV000045968 ; RCV000057563 ; RCV002453353 ; RCV003319305
• dbSNP Id: rs199472771
• MyVariant Identifiers: chr11:g.2608811G>T (hg19) ; chr11:g.2587581G>T (hg38)
• PubMed: PMID:15840476 ; PMID:19841300 ; PMID:22581653

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2587581G>T , CM000673.2:g.2587581G>T	GRCh38
NC_000011.9:g.2608811G>T , CM000673.1:g.2608811G>T	GRCh37
NC_000011.8:g.2565387G>T	NCBI36
NG_008935.1:g.147591G>T , LRG_287:g.147591G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.783G>T	ENSP00000434560.2:p.Arg261Ser
ENST00000646564.2:c.600G>T	ENSP00000495806.2:p.Arg200Ser
ENST00000155840.12:c.1140G>T MANE Select	ENSP00000155840.2:p.Arg380Ser
ENST00000335475.6:c.759G>T	ENSP00000334497.5:p.Arg253Ser
ENST00000646564.1:c.246G>T	ENSP00000495806.1:p.Arg82Ser
ENST00000155840.9:c.1140G>T	ENSP00000155840.2:p.Arg380Ser
ENST00000335475.5:c.759G>T	ENSP00000334497.5:p.Arg253Ser
NM_000218.2:c.1140G>T , LRG_287t1:c.1140G>T	NP_000209.2:p.Arg380Ser
NM_181798.1:c.759G>T , LRG_287t2:c.759G>T	NP_861463.1:p.Arg253Ser
NM_000218.3:c.1140G>T MANE Select	NP_000209.2:p.Arg380Ser