Canonical Allele Identifier: CA2612004140

Gene: KCNQ1

Linked Data

• gnomAD v4: 11-2572977-GT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2572978del , CM000673.2:g.2572978del	GRCh38
NC_000011.9:g.2594208del , CM000673.1:g.2594208del	GRCh37
NC_000011.8:g.2550784del	NCBI36
NG_008935.1:g.132988del , LRG_287:g.132988del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.652del	ENSP00000434560.2:p.Trp218GlyfsTer?
ENST00000646564.2:c.478-10457del	ENSP00000495806.2:n.478-10457del
ENST00000155840.12:c.913del MANE Select	ENSP00000155840.2:p.Trp305GlyfsTer?
ENST00000335475.6:c.532del	ENSP00000334497.5:p.Trp178GlyfsTer?
ENST00000646564.1:c.124-10457del	ENSP00000495806.1:n.124-10457del
ENST00000155840.9:c.913del	ENSP00000155840.2:p.Trp305GlyfsTer?
ENST00000335475.5:c.532del	ENSP00000334497.5:p.Trp178GlyfsTer?
NM_000218.2:c.913del , LRG_287t1:c.913del	NP_000209.2:p.Trp305GlyfsTer?
NM_181798.1:c.532del , LRG_287t2:c.532del	NP_861463.1:p.Trp178GlyfsTer?
NM_000218.3:c.913del MANE Select	NP_000209.2:p.Trp305GlyfsTer?