Canonical Allele Identifier: CA2573146065

Gene: KCNQ1

Linked Data

• ClinVar Variation Id: 1416082
• ClinVar RCV Id: RCV001935517
• dbSNP Id: rs2133750610

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2583447_2583454dup , CM000673.2:g.2583447_2583454dup	GRCh38
NC_000011.9:g.2604677_2604684dup , CM000673.1:g.2604677_2604684dup	GRCh37
NC_000011.8:g.2561253_2561260dup	NCBI36
NG_008935.1:g.143457_143464dup , LRG_287:g.143457_143464dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000496887.7:c.673_680dup	ENSP00000434560.2:p.Tyr228ProfsTer?
ENST00000646564.2:c.490_497dup	ENSP00000495806.2:p.Tyr167ProfsTer?
ENST00000155840.12:c.934_941dup MANE Select	ENSP00000155840.2:p.Tyr315ProfsTer?
ENST00000335475.6:c.553_560dup	ENSP00000334497.5:p.Tyr188ProfsTer?
ENST00000646564.1:c.136_143dup	ENSP00000495806.1:p.Tyr49ProfsTer?
ENST00000155840.9:c.934_941dup	ENSP00000155840.2:p.Tyr315ProfsTer?
ENST00000335475.5:c.553_560dup	ENSP00000334497.5:p.Tyr188ProfsTer?
NM_000218.2:c.934_941dup , LRG_287t1:c.934_941dup	NP_000209.2:p.Tyr315ProfsTer?
NM_181798.1:c.553_560dup , LRG_287t2:c.553_560dup	NP_861463.1:p.Tyr188ProfsTer?
NM_000218.3:c.934_941dup MANE Select	NP_000209.2:p.Tyr315ProfsTer?