Canonical Allele Identifier: CA1948161076
Gene: KCNQ1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2445519G= , CM000673.2:g.2445519G= GRCh38
NC_000011.9:g.2466749G= , CM000673.1:g.2466749G= GRCh37
NC_000011.8:g.2423325G= NCBI36
NG_008935.1:g.5529G= , LRG_287:g.5529G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000496887.7:c.125+35G= ENSP00000434560.2:n.125+35G=
ENST00000646564.2:c.386+35G= ENSP00000495806.2:n.386+35G=
ENST00000155840.12:c.386+35G= MANE Select ENSP00000155840.2:n.386+35G=
ENST00000646564.1:c.32+35G= ENSP00000495806.1:n.32+35G=
ENST00000155840.9:c.386+35G= ENSP00000155840.2:n.386+35G=
ENST00000345015.4:n.163+35G=
ENST00000496887.6:c.125+35G= ENSP00000434560.1:n.125+35G=
NM_000218.2:c.386+35G= , LRG_287t1:c.386+35G= NP_000209.2:n.386+35G=
NM_000218.3:c.386+35G= MANE Select NP_000209.2:n.386+35G=