Canonical Allele Identifier: CA305943

Gene: KCNQ1

Linked Data

• ClinVar Variation Id: 200870
• ClinVar RCV Id: RCV000182247 ; RCV001245469
• dbSNP Id: rs794728547
• MyVariant Identifiers: chr11:g.2591931dupA (hg19) ; chr11:g.2570701dupA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2570701dup , CM000673.2:g.2570701dup	GRCh38
NC_000011.9:g.2591931dup , CM000673.1:g.2591931dup	GRCh37
NC_000011.8:g.2548507dup	NCBI36
NG_008935.1:g.130711dup , LRG_287:g.130711dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000496887.7:c.290dup	ENSP00000434560.2:p.Tyr97Ter
ENST00000646564.2:c.478-12734dup	ENSP00000495806.2:n.478-12734dup
ENST00000155840.12:c.551dup MANE Select	ENSP00000155840.2:p.Tyr184Ter
ENST00000335475.6:c.170dup	ENSP00000334497.5:p.Tyr57Ter
ENST00000646564.1:c.124-12734dup	ENSP00000495806.1:n.124-12734dup
ENST00000155840.9:c.551dup	ENSP00000155840.2:p.Tyr184Ter
ENST00000335475.5:c.170dup	ENSP00000334497.5:p.Tyr57Ter
ENST00000496887.6:c.290dup	ENSP00000434560.1:p.Tyr97Ter
NM_000218.2:c.551dup , LRG_287t1:c.551dup	NP_000209.2:p.Tyr184Ter
NM_181798.1:c.170dup , LRG_287t2:c.170dup	NP_861463.1:p.Tyr57Ter
NM_000218.3:c.551dup MANE Select	NP_000209.2:p.Tyr184Ter