Canonical Allele Identifier: CA326304

Gene: KCNQ1

Linked Data

• ClinVar Variation Id: 53128
• ClinVar RCV Id: RCV000577248
• dbSNP Id: rs397508132
• MyVariant Identifiers: chr11:g.2594216_2594218del (hg19) ; chr11:g.2572986_2572988del (hg38)
• PubMed: PMID:9570196

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2572986_2572988del , CM000673.2:g.2572986_2572988del	GRCh38
NC_000011.9:g.2594216_2594218del , CM000673.1:g.2594216_2594218del	GRCh37
NC_000011.8:g.2550792_2550794del	NCBI36
NG_008935.1:g.132996_132998del , LRG_287:g.132996_132998del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.660_660+2del
ENST00000646564.2:c.478-10449_478-10447del	ENSP00000495806.2:n.478-10449_478-10447del
ENST00000155840.12:c.921_921+2del
ENST00000335475.6:c.540_540+2del
ENST00000646564.1:c.124-10449_124-10447del	ENSP00000495806.1:n.124-10449_124-10447del
ENST00000155840.9:c.921_921+2del
ENST00000335475.5:c.540_540+2del
NM_000218.2:c.921_921+2del , LRG_287t1:c.921_921+2del
NM_181798.1:c.540_540+2del , LRG_287t2:c.540_540+2del
NM_000218.3:c.921_921+2del