Canonical Allele Identifier: CA007159

Gene: KCNQ1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2528011T>G , CM000673.2:g.2528011T>G	GRCh38
NC_000011.9:g.2549241T>G , CM000673.1:g.2549241T>G	GRCh37
NC_000011.8:g.2505817T>G	NCBI36
NG_008935.1:g.88021T>G , LRG_287:g.88021T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000218.3:c.470T>G MANE Select	NP_000209.2:p.Phe157Cys
ENST00000155840.12:c.470T>G MANE Select	ENSP00000155840.2:p.Phe157Cys
NM_000218.2:c.470T>G , LRG_287t1:c.470T>G	NP_000209.2:p.Phe157Cys
NM_181798.1:c.89T>G , LRG_287t2:c.89T>G	NP_861463.1:p.Phe30Cys
ENST00000155840.9:c.470T>G	ENSP00000155840.2:p.Phe157Cys
ENST00000335475.5:c.89T>G	ENSP00000334497.5:p.Phe30Cys
ENST00000335475.6:c.89T>G	ENSP00000334497.5:p.Phe30Cys
ENST00000496887.6:c.209T>G	ENSP00000434560.1:p.Phe70Cys
ENST00000496887.7:c.209T>G	ENSP00000434560.2:p.Phe70Cys
ENST00000646564.1:c.116T>G	ENSP00000495806.1:p.Phe39Cys
ENST00000646564.2:c.470T>G	ENSP00000495806.2:p.Phe157Cys