Canonical Allele Identifier: CA2612002607

Gene: KCNQ1

Linked Data

• gnomAD v4: 11-2570712-TG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2570717del , CM000673.2:g.2570717del	GRCh38
NC_000011.9:g.2591947del , CM000673.1:g.2591947del	GRCh37
NC_000011.8:g.2548523del	NCBI36
NG_008935.1:g.130727del , LRG_287:g.130727del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.306del	ENSP00000434560.2:p.Arg103GlyfsTer?
ENST00000646564.2:c.478-12718del	ENSP00000495806.2:n.478-12718del
ENST00000155840.12:c.567del MANE Select	ENSP00000155840.2:p.Arg190GlyfsTer?
ENST00000335475.6:c.186del	ENSP00000334497.5:p.Arg63GlyfsTer?
ENST00000646564.1:c.124-12718del	ENSP00000495806.1:n.124-12718del
ENST00000155840.9:c.567del	ENSP00000155840.2:p.Arg190GlyfsTer?
ENST00000335475.5:c.186del	ENSP00000334497.5:p.Arg63GlyfsTer?
ENST00000496887.6:c.306del	ENSP00000434560.1:p.Arg103GlyfsTer?
NM_000218.2:c.567del , LRG_287t1:c.567del	NP_000209.2:p.Arg190GlyfsTer?
NM_181798.1:c.186del , LRG_287t2:c.186del	NP_861463.1:p.Arg63GlyfsTer?
NM_000218.3:c.567del MANE Select	NP_000209.2:p.Arg190GlyfsTer?