Canonical Allele Identifier: CA2590551916

Gene: KCNQ1

Linked Data

• gnomAD v3: 11-2571373-AG-A
• gnomAD v4: 11-2571373-AG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2571377del , CM000673.2:g.2571377del	GRCh38
NC_000011.9:g.2592607del , CM000673.1:g.2592607del	GRCh37
NC_000011.8:g.2549183del	NCBI36
NG_008935.1:g.131387del , LRG_287:g.131387del

Transcript Alleles

HGVS	Amino-acid change
ENST00000496887.7:c.396del	ENSP00000434560.2:p.Gln133ArgfsTer17
ENST00000646564.2:c.478-12058del	ENSP00000495806.2:n.478-12058del
ENST00000155840.12:c.657del MANE Select	ENSP00000155840.2:p.Gln220ArgfsTer17
ENST00000335475.6:c.276del	ENSP00000334497.5:p.Gln93ArgfsTer17
ENST00000646564.1:c.124-12058del	ENSP00000495806.1:n.124-12058del
ENST00000155840.9:c.657del	ENSP00000155840.2:p.Gln220ArgfsTer17
ENST00000335475.5:c.276del	ENSP00000334497.5:p.Gln93ArgfsTer17
ENST00000496887.6:c.396del	ENSP00000434560.1:p.Gln133ArgfsTer17
NM_000218.2:c.657del , LRG_287t1:c.657del	NP_000209.2:p.Gln220ArgfsTer17
NM_181798.1:c.276del , LRG_287t2:c.276del	NP_861463.1:p.Gln93ArgfsTer17
NM_000218.3:c.657del MANE Select	NP_000209.2:p.Gln220ArgfsTer17