Canonical Allele Identifier: CA379131463

Gene: KCNQ1

Linked Data

• ClinVar Variation Id: 663237
• ClinVar RCV Id: RCV000821080
• dbSNP Id: rs1589958473
• MyVariant Identifiers: chr11:g.2594131T>G (hg19) ; chr11:g.2572901T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2572901T>G , CM000673.2:g.2572901T>G	GRCh38
NC_000011.9:g.2594131T>G , CM000673.1:g.2594131T>G	GRCh37
NC_000011.8:g.2550707T>G	NCBI36
NG_008935.1:g.132911T>G , LRG_287:g.132911T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.575T>G	ENSP00000434560.2:p.Phe192Cys
ENST00000646564.2:c.478-10534T>G	ENSP00000495806.2:n.478-10534T>G
ENST00000155840.12:c.836T>G MANE Select	ENSP00000155840.2:p.Phe279Cys
ENST00000335475.6:c.455T>G	ENSP00000334497.5:p.Phe152Cys
ENST00000646564.1:c.124-10534T>G	ENSP00000495806.1:n.124-10534T>G
ENST00000155840.9:c.836T>G	ENSP00000155840.2:p.Phe279Cys
ENST00000335475.5:c.455T>G	ENSP00000334497.5:p.Phe152Cys
ENST00000496887.6:c.575T>G	ENSP00000434560.1:p.Phe192Cys
NM_000218.2:c.836T>G , LRG_287t1:c.836T>G	NP_000209.2:p.Phe279Cys
NM_181798.1:c.455T>G , LRG_287t2:c.455T>G	NP_861463.1:p.Phe152Cys
NM_000218.3:c.836T>G MANE Select	NP_000209.2:p.Phe279Cys