Canonical Allele Identifier: CA005240

Gene: KCNQ1

Linked Data

• ClinVar Variation Id: 52952
• ClinVar RCV Id: RCV000577377
• dbSNP Id: rs397508076
• MyVariant Identifiers: chr11:g.2606492_2606497dupGAAGCA (hg19) ; chr11:g.2585262_2585267dupGAAGCA (hg38)
• PubMed: PMID:11668638

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2585262_2585267dup , CM000673.2:g.2585262_2585267dup	GRCh38
NC_000011.9:g.2606492_2606497dup , CM000673.1:g.2606492_2606497dup	GRCh37
NC_000011.8:g.2563068_2563073dup	NCBI36
NG_008935.1:g.145272_145277dup , LRG_287:g.145272_145277dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000496887.7:c.771+1717_771+1722dup	ENSP00000434560.2:n.771+1717_771+1722dup
ENST00000646564.2:c.588+1717_588+1722dup	ENSP00000495806.2:n.588+1717_588+1722dup
ENST00000155840.12:c.1083_1088dup MANE Select	ENSP00000155840.2:p.Lys362_His363insGlnLy...
ENST00000335475.6:c.702_707dup	ENSP00000334497.5:p.Lys235_His236insGlnLy...
ENST00000646564.1:c.234+1717_234+1722dup	ENSP00000495806.1:n.234+1717_234+1722dup
ENST00000155840.9:c.1083_1088dup	ENSP00000155840.2:p.Lys362_His363insGlnLy...
ENST00000335475.5:c.702_707dup	ENSP00000334497.5:p.Lys235_His236insGlnLy...
NM_000218.2:c.1083_1088dup , LRG_287t1:c.1083_1088dup	NP_000209.2:p.Lys362_His363insGlnLys
NM_181798.1:c.702_707dup , LRG_287t2:c.702_707dup	NP_861463.1:p.Lys235_His236insGlnLys
NM_000218.3:c.1083_1088dup MANE Select	NP_000209.2:p.Lys362_His363insGlnLys