Canonical Allele Identifier: CA005493

Gene: KCNQ1

Linked Data

• ClinVar Variation Id: 52971
• ClinVar RCV Id: RCV000577453
• dbSNP Id: rs397508081
• MyVariant Identifiers: chr11:g.2608860del (hg19) ; chr11:g.2587630del (hg38)
• PubMed: PMID:10737999

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2587630del , CM000673.2:g.2587630del	GRCh38
NC_000011.9:g.2608860del , CM000673.1:g.2608860del	GRCh37
NC_000011.8:g.2565436del	NCBI36
NG_008935.1:g.147640del , LRG_287:g.147640del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.832del	ENSP00000434560.2:p.Arg278GlyfsTer22
ENST00000646564.2:c.649del	ENSP00000495806.2:p.Arg217GlyfsTer22
ENST00000155840.12:c.1189del MANE Select	ENSP00000155840.2:p.Arg397GlyfsTer22
ENST00000335475.6:c.808del	ENSP00000334497.5:p.Arg270GlyfsTer22
ENST00000646564.1:c.295del	ENSP00000495806.1:p.Arg99GlyfsTer22
ENST00000155840.9:c.1189del	ENSP00000155840.2:p.Arg397GlyfsTer22
ENST00000335475.5:c.808del	ENSP00000334497.5:p.Arg270GlyfsTer22
NM_000218.2:c.1189del , LRG_287t1:c.1189del	NP_000209.2:p.Arg397GlyfsTer22
NM_181798.1:c.808del , LRG_287t2:c.808del	NP_861463.1:p.Arg270GlyfsTer22
NM_000218.3:c.1189del MANE Select	NP_000209.2:p.Arg397GlyfsTer22