Canonical Allele Identifier: CA2611999850

Gene: KCNQ1

Linked Data

• gnomAD v4: 11-2445119-GC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2445122del , CM000673.2:g.2445122del	GRCh38
NC_000011.9:g.2466352del , CM000673.1:g.2466352del	GRCh37
NC_000011.8:g.2422928del	NCBI36
NG_008935.1:g.5132del , LRG_287:g.5132del

Transcript Alleles

HGVS	Amino-acid change
ENST00000496887.7:c.24-261del	ENSP00000434560.2:n.24-261del
ENST00000646564.2:c.24del	ENSP00000495806.2:p.Arg9GlyfsTer?
ENST00000155840.12:c.24del MANE Select	ENSP00000155840.2:p.Arg9GlyfsTer?
ENST00000155840.9:c.24del	ENSP00000155840.2:p.Arg9GlyfsTer?
ENST00000496887.6:c.24-261del	ENSP00000434560.1:n.24-261del
NM_000218.2:c.24del , LRG_287t1:c.24del	NP_000209.2:p.Arg9GlyfsTer?
NM_000218.3:c.24del MANE Select	NP_000209.2:p.Arg9GlyfsTer?