Canonical Allele Identifier: CA379133072

Gene: KCNQ1

Linked Data

• MyVariant Identifiers: chr11:g.2604738T>G (hg19) ; chr11:g.2583508T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2583508T>G , CM000673.2:g.2583508T>G	GRCh38
NC_000011.9:g.2604738T>G , CM000673.1:g.2604738T>G	GRCh37
NC_000011.8:g.2561314T>G	NCBI36
NG_008935.1:g.143518T>G , LRG_287:g.143518T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.734T>G	ENSP00000434560.2:p.Phe245Cys
ENST00000646564.2:c.551T>G	ENSP00000495806.2:p.Phe184Cys
ENST00000155840.12:c.995T>G MANE Select	ENSP00000155840.2:p.Phe332Cys
ENST00000335475.6:c.614T>G	ENSP00000334497.5:p.Phe205Cys
ENST00000646564.1:c.197T>G	ENSP00000495806.1:p.Phe66Cys
ENST00000155840.9:c.995T>G	ENSP00000155840.2:p.Phe332Cys
ENST00000335475.5:c.614T>G	ENSP00000334497.5:p.Phe205Cys
NM_000218.2:c.995T>G , LRG_287t1:c.995T>G	NP_000209.2:p.Phe332Cys
NM_181798.1:c.614T>G , LRG_287t2:c.614T>G	NP_861463.1:p.Phe205Cys
NM_000218.3:c.995T>G MANE Select	NP_000209.2:p.Phe332Cys