Canonical Allele Identifier: CA597432438

Gene: KCNQ1

Linked Data

• dbSNP Id: rs1434018612
• gnomAD v2: 11-2466401-CG-C
• gnomAD v4: 11-2445171-CG-C
• MyVariant Identifiers: chr11:g.2466402del (hg19) ; chr11:g.2445172del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2445175del , CM000673.2:g.2445175del	GRCh38
NC_000011.9:g.2466405del , CM000673.1:g.2466405del	GRCh37
NC_000011.8:g.2422981del	NCBI36
NG_008935.1:g.5185del , LRG_287:g.5185del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.24-208del	ENSP00000434560.2:n.24-208del
ENST00000646564.2:c.77del	ENSP00000495806.2:p.Gly26AlafsTer?
ENST00000155840.12:c.77del MANE Select	ENSP00000155840.2:p.Gly26AlafsTer?
ENST00000155840.9:c.77del	ENSP00000155840.2:p.Gly26AlafsTer?
ENST00000496887.6:c.24-208del	ENSP00000434560.1:n.24-208del
NM_000218.2:c.77del , LRG_287t1:c.77del	NP_000209.2:p.Gly26AlafsTer?
NM_000218.3:c.77del MANE Select	NP_000209.2:p.Gly26AlafsTer?