Canonical Allele Identifier: CA007133

Gene: KCNQ1

Linked Data

• ClinVar Variation Id: 53045
• ClinVar RCV Id: RCV000003281 ; RCV000182294 ; RCV001061673
• dbSNP Id: rs397508110
• MyVariant Identifiers: chr11:g.2549222_2549223del (hg19) ; chr11:g.2527992_2527993del (hg38)
• PubMed: PMID:10077519

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2527992_2527993del , CM000673.2:g.2527992_2527993del	GRCh38
NC_000011.9:g.2549222_2549223del , CM000673.1:g.2549222_2549223del	GRCh37
NC_000011.8:g.2505798_2505799del	NCBI36
NG_008935.1:g.88002_88003del , LRG_287:g.88002_88003del

Transcript Alleles

HGVS	Amino-acid change
ENST00000496887.7:c.190_191del	ENSP00000434560.2:p.Leu64GlyfsTer?
ENST00000646564.2:c.451_452del	ENSP00000495806.2:p.Leu151GlyfsTer?
ENST00000155840.12:c.451_452del MANE Select	ENSP00000155840.2:p.Leu151GlyfsTer?
ENST00000335475.6:c.70_71del	ENSP00000334497.5:p.Leu24GlyfsTer?
ENST00000646564.1:c.97_98del	ENSP00000495806.1:p.Leu33GlyfsTer?
ENST00000155840.9:c.451_452del	ENSP00000155840.2:p.Leu151GlyfsTer?
ENST00000335475.5:c.70_71del	ENSP00000334497.5:p.Leu24GlyfsTer?
ENST00000496887.6:c.190_191del	ENSP00000434560.1:p.Leu64GlyfsTer?
NM_000218.2:c.451_452del , LRG_287t1:c.451_452del	NP_000209.2:p.Leu151GlyfsTer?
NM_181798.1:c.70_71del , LRG_287t2:c.70_71del	NP_861463.1:p.Leu24GlyfsTer?
NM_000218.3:c.451_452del MANE Select	NP_000209.2:p.Leu151GlyfsTer?