Canonical Allele Identifier: CA10586242

Gene: KCNQ1

Linked Data

• ClinVar Variation Id: 253221
• ClinVar RCV Id: RCV000239665
• dbSNP Id: rs763462603
• gnomAD v2: 11-2591894-G-GTGGTCCGCCTC
• gnomAD v4: 11-2570664-G-GTGGTCCGCCTC
• MyVariant Identifiers: chr11:g.2591904_2591914dupTCTGGTCCGCC (hg19) ; chr11:g.2591894_2591895insTGGTCCGCCTC (hg19) ; chr11:g.2570674_2570684dupTCTGGTCCGCC (hg38)
• PubMed: PMID:27485560

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2570674_2570684dup , CM000673.2:g.2570674_2570684dup	GRCh38
NC_000011.9:g.2591904_2591914dup , CM000673.1:g.2591904_2591914dup	GRCh37
NC_000011.8:g.2548480_2548490dup	NCBI36
NG_008935.1:g.130684_130694dup , LRG_287:g.130684_130694dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000496887.7:c.263_273dup	ENSP00000434560.2:p.Gly92SerfsTer?
ENST00000646564.2:c.478-12761_478-12751dup	ENSP00000495806.2:n.478-12761_478-12751dup
ENST00000155840.12:c.524_534dup MANE Select	ENSP00000155840.2:p.Gly179SerfsTer?
ENST00000335475.6:c.143_153dup	ENSP00000334497.5:p.Gly52SerfsTer?
ENST00000646564.1:c.124-12761_124-12751dup	ENSP00000495806.1:n.124-12761_124-12751dup
ENST00000155840.9:c.524_534dup	ENSP00000155840.2:p.Gly179SerfsTer?
ENST00000335475.5:c.143_153dup	ENSP00000334497.5:p.Gly52SerfsTer?
ENST00000496887.6:c.263_273dup	ENSP00000434560.1:p.Gly92SerfsTer?
NM_000218.2:c.524_534dup , LRG_287t1:c.524_534dup	NP_000209.2:p.Gly179SerfsTer?
NM_181798.1:c.143_153dup , LRG_287t2:c.143_153dup	NP_861463.1:p.Gly52SerfsTer?
NM_000218.3:c.524_534dup MANE Select	NP_000209.2:p.Gly179SerfsTer?