Canonical Allele Identifier: CA16613509
Gene: KCNQ1 HGNC NCBI

Linked Data

ClinVar Variation Id: 405262
ClinVar RCV Id: RCV000460244
dbSNP Id: rs1060500626

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2572074_2572083del , CM000673.2:g.2572074_2572083del GRCh38
NC_000011.9:g.2593304_2593313del , CM000673.1:g.2593304_2593313del GRCh37
NC_000011.8:g.2549880_2549889del NCBI36
NG_008935.1:g.132084_132093del , LRG_287:g.132084_132093del

Transcript Alleles

HGVS Amino-acid change
ENST00000155840.12:c.745_754del MANE Select ENSP00000155840.2:p.Arg249AlafsTer11
ENST00000335475.6:c.364_373del ENSP00000334497.5:p.Arg122AlafsTer11
ENST00000646564.1:n.124-11361_124-11352del ENSP00000495806.1:p.=
ENST00000155840.9:c.745_754del ENSP00000155840.2:p.Arg249AlafsTer11
ENST00000335475.5:c.364_373del ENSP00000334497.5:p.Arg122AlafsTer11
ENST00000496887.6:c.484_493del ENSP00000434560.1:p.Arg162AlafsTer11
NM_000218.2:c.745_754del , LRG_287t1:c.745_754del NP_000209.2:p.Arg249AlafsTer11
NM_181798.1:c.364_373del , LRG_287t2:c.364_373del NP_861463.1:p.Arg122AlafsTer11
NM_000218.3:c.745_754del MANE Select NP_000209.2:p.Arg249AlafsTer11