Canonical Allele Identifier: CA2612003967

Gene: KCNQ1

Linked Data

• gnomAD v4: 11-2572222-T-TG

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2572223dup , CM000673.2:g.2572223dup	GRCh38
NC_000011.9:g.2593453dup , CM000673.1:g.2593453dup	GRCh37
NC_000011.8:g.2550029dup	NCBI36
NG_008935.1:g.132233dup , LRG_287:g.132233dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.519+114dup	ENSP00000434560.2:n.519+114dup
ENST00000646564.2:c.478-11212dup	ENSP00000495806.2:n.478-11212dup
ENST00000155840.12:c.780+114dup MANE Select	ENSP00000155840.2:n.780+114dup
ENST00000335475.6:c.399+114dup	ENSP00000334497.5:n.399+114dup
ENST00000646564.1:c.124-11212dup	ENSP00000495806.1:n.124-11212dup
ENST00000155840.9:c.780+114dup	ENSP00000155840.2:n.780+114dup
ENST00000335475.5:c.399+114dup	ENSP00000334497.5:n.399+114dup
ENST00000496887.6:c.519+114dup	ENSP00000434560.1:n.519+114dup
NM_000218.2:c.780+114dup , LRG_287t1:c.780+114dup	NP_000209.2:n.780+114dup
NM_181798.1:c.399+114dup , LRG_287t2:c.399+114dup	NP_861463.1:n.399+114dup
NM_000218.3:c.780+114dup MANE Select	NP_000209.2:n.780+114dup