Canonical Allele Identifier: CA5822077

Gene: KCNQ1

Linked Data

• ClinVar Variation Id: 519537
• ClinVar RCV Id: RCV000619078 ; RCV000814151 ; RCV001591385
• dbSNP Id: rs763462603
• ExAC: 11:2591894 GTGGTCCGCCTC / G
• gnomAD v4: 11-2570664-GTGGTCCGCCTC-G
• MyVariant Identifiers: chr11:g.2591904_2591914del (hg19) ; chr11:g.2591895_2591905del (hg19) ; chr11:g.2570674_2570684del (hg38) ; chr11:g.2570665_2570675del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2570674_2570684del , CM000673.2:g.2570674_2570684del	GRCh38
NC_000011.9:g.2591904_2591914del , CM000673.1:g.2591904_2591914del	GRCh37
NC_000011.8:g.2548480_2548490del	NCBI36
NG_008935.1:g.130684_130694del , LRG_287:g.130684_130694del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.263_273del	ENSP00000434560.2:p.Leu88ArgfsTer?
ENST00000646564.2:c.478-12761_478-12751del	ENSP00000495806.2:n.478-12761_478-12751del
ENST00000155840.12:c.524_534del MANE Select	ENSP00000155840.2:p.Leu175ArgfsTer?
ENST00000335475.6:c.143_153del	ENSP00000334497.5:p.Leu48ArgfsTer?
ENST00000646564.1:c.124-12761_124-12751del	ENSP00000495806.1:n.124-12761_124-12751del
ENST00000155840.9:c.524_534del	ENSP00000155840.2:p.Leu175ArgfsTer?
ENST00000335475.5:c.143_153del	ENSP00000334497.5:p.Leu48ArgfsTer?
ENST00000496887.6:c.263_273del	ENSP00000434560.1:p.Leu88ArgfsTer?
NM_000218.2:c.524_534del , LRG_287t1:c.524_534del	NP_000209.2:p.Leu175ArgfsTer?
NM_181798.1:c.143_153del , LRG_287t2:c.143_153del	NP_861463.1:p.Leu48ArgfsTer?
NM_000218.3:c.524_534del MANE Select	NP_000209.2:p.Leu175ArgfsTer?