Canonical Allele Identifier: CA1948229060
Gene: KCNQ1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2585272A= , CM000673.2:g.2585272A= GRCh38
NC_000011.9:g.2606502A= , CM000673.1:g.2606502A= GRCh37
NC_000011.8:g.2563078A= NCBI36
NG_008935.1:g.145282A= , LRG_287:g.145282A=

Transcript Alleles

HGVS Amino-acid change
ENST00000496887.7:c.771+1727A= ENSP00000434560.2:n.771+1727A=
ENST00000646564.2:c.588+1727A= ENSP00000495806.2:n.588+1727A=
ENST00000155840.12:c.1093A= MANE Select ENSP00000155840.2:p.Asn365=
ENST00000335475.6:c.712A= ENSP00000334497.5:p.Asn238=
ENST00000646564.1:c.234+1727A= ENSP00000495806.1:n.234+1727A=
ENST00000155840.9:c.1093A= ENSP00000155840.2:p.Asn365=
ENST00000335475.5:c.712A= ENSP00000334497.5:p.Asn238=
NM_000218.2:c.1093A= , LRG_287t1:c.1093A= NP_000209.2:p.Asn365=
NM_181798.1:c.712A= , LRG_287t2:c.712A= NP_861463.1:p.Asn238=
NM_000218.3:c.1093A= MANE Select NP_000209.2:p.Asn365=