Canonical Allele Identifier: CA040122

Gene: KCNQ1

Linked Data

• ClinVar Variation Id: 1171337
• ClinVar RCV Id: RCV001842079
• dbSNP Id: rs533669726
• ExAC: 11:2593278 A / G
• gnomAD v2: 11-2593278-A-G
• gnomAD v3: 11-2572048-A-G
• gnomAD v4: 11-2572048-A-G
• MyVariant Identifiers: chr11:g.2593278A>G (hg19) ; chr11:g.2572048A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2572048A>G , CM000673.2:g.2572048A>G	GRCh38
NC_000011.9:g.2593278A>G , CM000673.1:g.2593278A>G	GRCh37
NC_000011.8:g.2549854A>G	NCBI36
NG_008935.1:g.132058A>G , LRG_287:g.132058A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.458A>G	ENSP00000434560.2:p.His153Arg
ENST00000646564.2:c.478-11387A>G	ENSP00000495806.2:n.478-11387A>G
ENST00000155840.12:c.719A>G MANE Select	ENSP00000155840.2:p.His240Arg
ENST00000335475.6:c.338A>G	ENSP00000334497.5:p.His113Arg
ENST00000646564.1:c.124-11387A>G	ENSP00000495806.1:n.124-11387A>G
ENST00000155840.9:c.719A>G	ENSP00000155840.2:p.His240Arg
ENST00000335475.5:c.338A>G	ENSP00000334497.5:p.His113Arg
ENST00000496887.6:c.458A>G	ENSP00000434560.1:p.His153Arg
NM_000218.2:c.719A>G , LRG_287t1:c.719A>G	NP_000209.2:p.His240Arg
NM_181798.1:c.338A>G , LRG_287t2:c.338A>G	NP_861463.1:p.His113Arg
NM_000218.3:c.719A>G MANE Select	NP_000209.2:p.His240Arg