Canonical Allele Identifier: CA1948160575
Gene: KCNQ1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2445030G= , CM000673.2:g.2445030G= GRCh38
NC_000011.9:g.2466260G= , CM000673.1:g.2466260G= GRCh37
NC_000011.8:g.2422836G= NCBI36
NG_008935.1:g.5040G= , LRG_287:g.5040G=

Transcript Alleles

HGVS Amino-acid change
ENST00000496887.7:c.23+322G= ENSP00000434560.2:n.23+322G=
ENST00000646564.2:c.-69G= ENSP00000495806.2:n.-69G=
ENST00000155840.12:c.-69G= MANE Select ENSP00000155840.2:n.-69G=
ENST00000155840.9:c.-69G= ENSP00000155840.2:n.-69G=
ENST00000496887.6:c.23+322G= ENSP00000434560.1:n.23+322G=
NM_000218.2:c.-69G= , LRG_287t1:c.-69G= NP_000209.2:n.-69G=
NM_000218.3:c.-69G= MANE Select NP_000209.2:n.-69G=