Canonical Allele Identifier: CA913188343

Gene: KCNQ1

Linked Data

• ClinVar Variation Id: 1457672
• ClinVar RCV Id: RCV001953881 ; RCV002370612 ; RCV004017886
• dbSNP Id: rs2133733071
• gnomAD v4: 11-2572978-TG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2572984del , CM000673.2:g.2572984del	GRCh38
NC_000011.9:g.2594214del , CM000673.1:g.2594214del	GRCh37
NC_000011.8:g.2550790del	NCBI36
NG_008935.1:g.132994del , LRG_287:g.132994del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.658del	ENSP00000434560.2:p.Val220TrpfsTer?
ENST00000646564.2:c.478-10451del	ENSP00000495806.2:n.478-10451del
ENST00000155840.12:c.919del MANE Select	ENSP00000155840.2:p.Val307TrpfsTer?
ENST00000335475.6:c.538del	ENSP00000334497.5:p.Val180TrpfsTer?
ENST00000646564.1:c.124-10451del	ENSP00000495806.1:n.124-10451del
ENST00000155840.9:c.919del	ENSP00000155840.2:p.Val307TrpfsTer?
ENST00000335475.5:c.538del	ENSP00000334497.5:p.Val180TrpfsTer?
NM_000218.2:c.919del , LRG_287t1:c.919del	NP_000209.2:p.Val307TrpfsTer?
NM_181798.1:c.538del , LRG_287t2:c.538del	NP_861463.1:p.Val180TrpfsTer?
NM_000218.3:c.919del MANE Select	NP_000209.2:p.Val307TrpfsTer?