Canonical Allele Identifier: CA2574728182

Gene: KCNQ1

Linked Data

• gnomAD v4: 11-2571271-TG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2571275del , CM000673.2:g.2571275del	GRCh38
NC_000011.9:g.2592505del , CM000673.1:g.2592505del	GRCh37
NC_000011.8:g.2549081del	NCBI36
NG_008935.1:g.131285del , LRG_287:g.131285del

Transcript Alleles

HGVS	Amino-acid change
ENST00000496887.7:c.344-50del	ENSP00000434560.2:n.344-50del
ENST00000646564.2:c.478-12160del	ENSP00000495806.2:n.478-12160del
ENST00000155840.12:c.605-50del MANE Select	ENSP00000155840.2:n.605-50del
ENST00000335475.6:c.224-50del	ENSP00000334497.5:n.224-50del
ENST00000646564.1:c.124-12160del	ENSP00000495806.1:n.124-12160del
ENST00000155840.9:c.605-50del	ENSP00000155840.2:n.605-50del
ENST00000335475.5:c.224-50del	ENSP00000334497.5:n.224-50del
ENST00000496887.6:c.344-50del	ENSP00000434560.1:n.344-50del
NM_000218.2:c.605-50del , LRG_287t1:c.605-50del	NP_000209.2:n.605-50del
NM_181798.1:c.224-50del , LRG_287t2:c.224-50del	NP_861463.1:n.224-50del
NM_000218.3:c.605-50del MANE Select	NP_000209.2:n.605-50del