Canonical Allele Identifier: CA597373502

Gene: KCNQ1

Linked Data

• dbSNP Id: rs1229991584
• gnomAD v2: 11-2752529-AC-A
• gnomAD v3: 11-2731299-AC-A
• gnomAD v4: 11-2731299-AC-A
• MyVariant Identifiers: chr11:g.2752530del (hg19) ; chr11:g.2731300del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2731300del , CM000673.2:g.2731300del	GRCh38
NC_000011.9:g.2752530del , CM000673.1:g.2752530del	GRCh37
NC_000011.8:g.2709106del	NCBI36
NG_008935.1:g.291310del , LRG_287:g.291310del

Transcript Alleles

HGVS	Amino-acid change
ENST00000496887.7:c.1158-37544del	ENSP00000434560.2:n.1158-37544del
ENST00000646564.2:c.975-37544del	ENSP00000495806.2:n.975-37544del
ENST00000155840.12:c.1515-37544del MANE Select	ENSP00000155840.2:n.1515-37544del
ENST00000335475.6:c.1134-37544del	ENSP00000334497.5:n.1134-37544del
ENST00000646564.1:c.621-37544del	ENSP00000495806.1:n.621-37544del
ENST00000155840.9:c.1515-37544del	ENSP00000155840.2:n.1515-37544del
ENST00000335475.5:c.1134-37544del	ENSP00000334497.5:n.1134-37544del
NM_000218.2:c.1515-37544del , LRG_287t1:c.1515-37544del	NP_000209.2:n.1515-37544del
NM_181798.1:c.1134-37544del , LRG_287t2:c.1134-37544del	NP_861463.1:n.1134-37544del
NM_000218.3:c.1515-37544del MANE Select	NP_000209.2:n.1515-37544del