Canonical Allele Identifier: CA1948232907
Gene: KCNQ1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2587550G= , CM000673.2:g.2587550G= GRCh38
NC_000011.9:g.2608780G= , CM000673.1:g.2608780G= GRCh37
NC_000011.8:g.2565356G= NCBI36
NG_008935.1:g.147560G= , LRG_287:g.147560G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000496887.7:c.772-20G= ENSP00000434560.2:n.772-20G=
ENST00000646564.2:c.589-20G= ENSP00000495806.2:n.589-20G=
ENST00000155840.12:c.1129-20G= MANE Select ENSP00000155840.2:n.1129-20G=
ENST00000335475.6:c.748-20G= ENSP00000334497.5:n.748-20G=
ENST00000646564.1:c.235-20G= ENSP00000495806.1:n.235-20G=
ENST00000155840.9:c.1129-20G= ENSP00000155840.2:n.1129-20G=
ENST00000335475.5:c.748-20G= ENSP00000334497.5:n.748-20G=
NM_000218.2:c.1129-20G= , LRG_287t1:c.1129-20G= NP_000209.2:n.1129-20G=
NM_181798.1:c.748-20G= , LRG_287t2:c.748-20G= NP_861463.1:n.748-20G=
NM_000218.3:c.1129-20G= MANE Select NP_000209.2:n.1129-20G=