Canonical Allele Identifier: CA305983

Gene: KCNQ1

Linked Data

• ClinVar Variation Id: 200886
• ClinVar RCV Id: RCV001842877
• dbSNP Id: rs794728560
• MyVariant Identifiers: chr11:g.2604780dupG (hg19) ; chr11:g.2583550dupG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2583550dup , CM000673.2:g.2583550dup	GRCh38
NC_000011.9:g.2604780dup , CM000673.1:g.2604780dup	GRCh37
NC_000011.8:g.2561356dup	NCBI36
NG_008935.1:g.143560dup , LRG_287:g.143560dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000496887.7:c.771+5dup	ENSP00000434560.2:n.771+5dup
ENST00000646564.2:c.588+5dup	ENSP00000495806.2:n.588+5dup
ENST00000155840.12:c.1032+5dup MANE Select	ENSP00000155840.2:n.1032+5dup
ENST00000335475.6:c.651+5dup	ENSP00000334497.5:n.651+5dup
ENST00000646564.1:c.234+5dup	ENSP00000495806.1:n.234+5dup
ENST00000155840.9:c.1032+5dup	ENSP00000155840.2:n.1032+5dup
ENST00000335475.5:c.651+5dup	ENSP00000334497.5:n.651+5dup
NM_000218.2:c.1032+5dup , LRG_287t1:c.1032+5dup	NP_000209.2:n.1032+5dup
NM_181798.1:c.651+5dup , LRG_287t2:c.651+5dup	NP_861463.1:n.651+5dup
NM_000218.3:c.1032+5dup MANE Select	NP_000209.2:n.1032+5dup