Canonical Allele Identifier: CA1948161039
Gene: KCNQ1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2445463G= , CM000673.2:g.2445463G= GRCh38
NC_000011.9:g.2466693G= , CM000673.1:g.2466693G= GRCh37
NC_000011.8:g.2423269G= NCBI36
NG_008935.1:g.5473G= , LRG_287:g.5473G=

Transcript Alleles

HGVS Amino-acid change
ENST00000496887.7:c.104G= ENSP00000434560.2:p.Cys35=
ENST00000646564.2:c.365G= ENSP00000495806.2:p.Cys122=
ENST00000155840.12:c.365G= MANE Select ENSP00000155840.2:p.Cys122=
ENST00000646564.1:c.11G= ENSP00000495806.1:p.Cys4=
ENST00000155840.9:c.365G= ENSP00000155840.2:p.Cys122=
ENST00000345015.4:n.142G=
ENST00000496887.6:c.104G= ENSP00000434560.1:p.Cys35=
NM_000218.2:c.365G= , LRG_287t1:c.365G= NP_000209.2:p.Cys122=
NM_000218.3:c.365G= MANE Select NP_000209.2:p.Cys122=