Canonical Allele Identifier: CA007538

Gene: KCNQ1

Linked Data

• ClinVar Variation Id: 200882
• ClinVar RCV Id: RCV000182267
• dbSNP Id: rs794728556
• MyVariant Identifiers: chr11:g.2591949_2591962del (hg19) ; chr11:g.2570719_2570732del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2570719_2570732del , CM000673.2:g.2570719_2570732del	GRCh38
NC_000011.9:g.2591949_2591962del , CM000673.1:g.2591949_2591962del	GRCh37
NC_000011.8:g.2548525_2548538del	NCBI36
NG_008935.1:g.130729_130742del , LRG_287:g.130729_130742del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.308_321del	ENSP00000434560.2:p.Arg103ProfsTer?
ENST00000646564.2:c.478-12716_478-12703del	ENSP00000495806.2:n.478-12716_478-12703del
ENST00000155840.12:c.569_582del MANE Select	ENSP00000155840.2:p.Arg190ProfsTer?
ENST00000335475.6:c.188_201del	ENSP00000334497.5:p.Arg63ProfsTer?
ENST00000646564.1:c.124-12716_124-12703del	ENSP00000495806.1:n.124-12716_124-12703del
ENST00000155840.9:c.569_582del	ENSP00000155840.2:p.Arg190ProfsTer?
ENST00000335475.5:c.188_201del	ENSP00000334497.5:p.Arg63ProfsTer?
ENST00000496887.6:c.308_321del	ENSP00000434560.1:p.Arg103ProfsTer?
NM_000218.2:c.569_582del , LRG_287t1:c.569_582del	NP_000209.2:p.Arg190ProfsTer?
NM_181798.1:c.188_201del , LRG_287t2:c.188_201del	NP_861463.1:p.Arg63ProfsTer?
NM_000218.3:c.569_582del MANE Select	NP_000209.2:p.Arg190ProfsTer?