Canonical Allele Identifier: CA1948239238
Gene: KCNQ1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2570604G= , CM000673.2:g.2570604G= GRCh38
NC_000011.9:g.2591834G= , CM000673.1:g.2591834G= GRCh37
NC_000011.8:g.2548410G= NCBI36
NG_008935.1:g.130614G= , LRG_287:g.130614G=

Transcript Alleles

HGVS Amino-acid change
ENST00000496887.7:c.217-24G= ENSP00000434560.2:n.217-24G=
ENST00000646564.2:c.478-12831G= ENSP00000495806.2:n.478-12831G=
ENST00000155840.12:c.478-24G= MANE Select ENSP00000155840.2:n.478-24G=
ENST00000335475.6:c.97-24G= ENSP00000334497.5:n.97-24G=
ENST00000646564.1:c.124-12831G= ENSP00000495806.1:n.124-12831G=
ENST00000155840.9:c.478-24G= ENSP00000155840.2:n.478-24G=
ENST00000335475.5:c.97-24G= ENSP00000334497.5:n.97-24G=
ENST00000496887.6:c.217-24G= ENSP00000434560.1:n.217-24G=
NM_000218.2:c.478-24G= , LRG_287t1:c.478-24G= NP_000209.2:n.478-24G=
NM_181798.1:c.97-24G= , LRG_287t2:c.97-24G= NP_861463.1:n.97-24G=
NM_000218.3:c.478-24G= MANE Select NP_000209.2:n.478-24G=