Canonical Allele Identifier: CA658797567

Gene: KCNQ1

Linked Data

• ClinVar Variation Id: 438610
• ClinVar RCV Id: RCV000625528 ; RCV001814172
• dbSNP Id: rs1554893092
• MyVariant Identifiers: chr11:g.2593292_2593293del (hg19) ; chr11:g.2572062_2572063del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2572062_2572063del , CM000673.2:g.2572062_2572063del	GRCh38
NC_000011.9:g.2593292_2593293del , CM000673.1:g.2593292_2593293del	GRCh37
NC_000011.8:g.2549868_2549869del	NCBI36
NG_008935.1:g.132072_132073del , LRG_287:g.132072_132073del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.472_473del	ENSP00000434560.2:p.Gly158ArgfsTer?
ENST00000646564.2:c.478-11373_478-11372del	ENSP00000495806.2:n.478-11373_478-11372del
ENST00000155840.12:c.733_734del MANE Select	ENSP00000155840.2:p.Gly245ArgfsTer?
ENST00000335475.6:c.352_353del	ENSP00000334497.5:p.Gly118ArgfsTer?
ENST00000646564.1:c.124-11373_124-11372del	ENSP00000495806.1:n.124-11373_124-11372del
ENST00000155840.9:c.733_734del	ENSP00000155840.2:p.Gly245ArgfsTer?
ENST00000335475.5:c.352_353del	ENSP00000334497.5:p.Gly118ArgfsTer?
ENST00000496887.6:c.472_473del	ENSP00000434560.1:p.Gly158ArgfsTer?
NM_000218.2:c.733_734del , LRG_287t1:c.733_734del	NP_000209.2:p.Gly245ArgfsTer?
NM_181798.1:c.352_353del , LRG_287t2:c.352_353del	NP_861463.1:p.Gly118ArgfsTer?
NM_000218.3:c.733_734del MANE Select	NP_000209.2:p.Gly245ArgfsTer?