Canonical Allele Identifier: CA597110685

Gene: KCNQ1

Linked Data

• dbSNP Id: rs1358700014
• gnomAD v2: 11-2606405-CTG-C
• MyVariant Identifiers: chr11:g.2606406_2606407del (hg19) ; chr11:g.2585176_2585177del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2585180_2585181del , CM000673.2:g.2585180_2585181del	GRCh38
NC_000011.9:g.2606410_2606411del , CM000673.1:g.2606410_2606411del	GRCh37
NC_000011.8:g.2562986_2562987del	NCBI36
NG_008935.1:g.145190_145191del , LRG_287:g.145190_145191del

Transcript Alleles

HGVS	Amino-acid change
ENST00000496887.7:c.771+1635_771+1636del	ENSP00000434560.2:n.771+1635_771+1636del
ENST00000646564.2:c.588+1635_588+1636del	ENSP00000495806.2:n.588+1635_588+1636del
ENST00000155840.12:c.1033-32_1033-31del MANE Select	ENSP00000155840.2:n.1033-32_1033-31del
ENST00000335475.6:c.652-32_652-31del	ENSP00000334497.5:n.652-32_652-31del
ENST00000646564.1:c.234+1635_234+1636del	ENSP00000495806.1:n.234+1635_234+1636del
ENST00000155840.9:c.1033-32_1033-31del	ENSP00000155840.2:n.1033-32_1033-31del
ENST00000335475.5:c.652-32_652-31del	ENSP00000334497.5:n.652-32_652-31del
NM_000218.2:c.1033-32_1033-31del , LRG_287t1:c.1033-32_1033-31del	NP_000209.2:n.1033-32_1033-31del
NM_181798.1:c.652-32_652-31del , LRG_287t2:c.652-32_652-31del	NP_861463.1:n.652-32_652-31del
NM_000218.3:c.1033-32_1033-31del MANE Select	NP_000209.2:n.1033-32_1033-31del