Canonical Allele Identifier: CA891843060

Gene: KCNQ1

Linked Data

• ClinVar Variation Id: 581345
• ClinVar RCV Id: RCV000705141
• dbSNP Id: rs1564824264
• MyVariant Identifiers: chr11:g.2604678_2604680del (hg19) ; chr11:g.2583448_2583450del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2583448_2583450del , CM000673.2:g.2583448_2583450del	GRCh38
NC_000011.9:g.2604678_2604680del , CM000673.1:g.2604678_2604680del	GRCh37
NC_000011.8:g.2561254_2561256del	NCBI36
NG_008935.1:g.143458_143460del , LRG_287:g.143458_143460del

Transcript Alleles

HGVS	Amino-acid change
ENST00000496887.7:c.674_676del	ENSP00000434560.2:p.Thr225del
ENST00000646564.2:c.491_493del	ENSP00000495806.2:p.Thr164del
ENST00000155840.12:c.935_937del MANE Select	ENSP00000155840.2:p.Thr312del
ENST00000335475.6:c.554_556del	ENSP00000334497.5:p.Thr185del
ENST00000646564.1:c.137_139del	ENSP00000495806.1:p.Thr46del
ENST00000155840.9:c.935_937del	ENSP00000155840.2:p.Thr312del
ENST00000335475.5:c.554_556del	ENSP00000334497.5:p.Thr185del
NM_000218.2:c.935_937del , LRG_287t1:c.935_937del	NP_000209.2:p.Thr312del
NM_181798.1:c.554_556del , LRG_287t2:c.554_556del	NP_861463.1:p.Thr185del
NM_000218.3:c.935_937del MANE Select	NP_000209.2:p.Thr312del