Canonical Allele Identifier: CA1948228970
Gene: KCNQ1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2585255A= , CM000673.2:g.2585255A= GRCh38
NC_000011.9:g.2606485A= , CM000673.1:g.2606485A= GRCh37
NC_000011.8:g.2563061A= NCBI36
NG_008935.1:g.145265A= , LRG_287:g.145265A=

Transcript Alleles

HGVS Amino-acid change
ENST00000496887.7:c.771+1710A= ENSP00000434560.2:n.771+1710A=
ENST00000646564.2:c.588+1710A= ENSP00000495806.2:n.588+1710A=
ENST00000155840.12:c.1076A= MANE Select ENSP00000155840.2:p.Gln359=
ENST00000335475.6:c.695A= ENSP00000334497.5:p.Gln232=
ENST00000646564.1:c.234+1710A= ENSP00000495806.1:n.234+1710A=
ENST00000155840.9:c.1076A= ENSP00000155840.2:p.Gln359=
ENST00000335475.5:c.695A= ENSP00000334497.5:p.Gln232=
NM_000218.2:c.1076A= , LRG_287t1:c.1076A= NP_000209.2:p.Gln359=
NM_181798.1:c.695A= , LRG_287t2:c.695A= NP_861463.1:p.Gln232=
NM_000218.3:c.1076A= MANE Select NP_000209.2:p.Gln359=