Canonical Allele Identifier: CA674973315

Gene: KCNQ1

Linked Data

• dbSNP Id: rs1425763290
• gnomAD v3: 11-2571650-CTG-C
• gnomAD v4: 11-2571650-CTG-C
• MyVariant Identifiers: chr11:g.2592881_2592882del (hg19) ; chr11:g.2571651_2571652del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2571651_2571652del , CM000673.2:g.2571651_2571652del	GRCh38
NC_000011.9:g.2592881_2592882del , CM000673.1:g.2592881_2592882del	GRCh37
NC_000011.8:g.2549457_2549458del	NCBI36
NG_008935.1:g.131661_131662del , LRG_287:g.131661_131662del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.422+248_422+249del	ENSP00000434560.2:n.422+248_422+249del
ENST00000646564.2:c.478-11784_478-11783del	ENSP00000495806.2:n.478-11784_478-11783del
ENST00000155840.12:c.683+248_683+249del MANE Select	ENSP00000155840.2:n.683+248_683+249del
ENST00000335475.6:c.302+248_302+249del	ENSP00000334497.5:n.302+248_302+249del
ENST00000646564.1:c.124-11784_124-11783del	ENSP00000495806.1:n.124-11784_124-11783del
ENST00000155840.9:c.683+248_683+249del	ENSP00000155840.2:n.683+248_683+249del
ENST00000335475.5:c.302+248_302+249del	ENSP00000334497.5:n.302+248_302+249del
ENST00000496887.6:c.422+248_422+249del	ENSP00000434560.1:n.422+248_422+249del
NM_000218.2:c.683+248_683+249del , LRG_287t1:c.683+248_683+249del	NP_000209.2:n.683+248_683+249del
NM_181798.1:c.302+248_302+249del , LRG_287t2:c.302+248_302+249del	NP_861463.1:n.302+248_302+249del
NM_000218.3:c.683+248_683+249del MANE Select	NP_000209.2:n.683+248_683+249del