Canonical Allele Identifier: CA1948160564
Gene: KCNQ1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2445026G= , CM000673.2:g.2445026G= GRCh38
NC_000011.9:g.2466256G= , CM000673.1:g.2466256G= GRCh37
NC_000011.8:g.2422832G= NCBI36
NG_008935.1:g.5036G= , LRG_287:g.5036G=

Transcript Alleles

HGVS Amino-acid change
ENST00000496887.7:c.23+318G= ENSP00000434560.2:n.23+318G=
ENST00000646564.2:c.-73G= ENSP00000495806.2:n.-73G=
ENST00000155840.12:c.-73G= MANE Select ENSP00000155840.2:n.-73G=
ENST00000155840.9:c.-73G= ENSP00000155840.2:n.-73G=
ENST00000496887.6:c.23+318G= ENSP00000434560.1:n.23+318G=
NM_000218.2:c.-73G= , LRG_287t1:c.-73G= NP_000209.2:n.-73G=
NM_000218.3:c.-73G= MANE Select NP_000209.2:n.-73G=