Canonical Allele Identifier: CA1948241215
Gene: KCNQ1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2571269C= , CM000673.2:g.2571269C= GRCh38
NC_000011.9:g.2592499C= , CM000673.1:g.2592499C= GRCh37
NC_000011.8:g.2549075C= NCBI36
NG_008935.1:g.131279C= , LRG_287:g.131279C=

Transcript Alleles

HGVS Amino-acid change
ENST00000496887.7:c.344-56C= ENSP00000434560.2:n.344-56C=
ENST00000646564.2:c.478-12166C= ENSP00000495806.2:n.478-12166C=
ENST00000155840.12:c.605-56C= MANE Select ENSP00000155840.2:n.605-56C=
ENST00000335475.6:c.224-56C= ENSP00000334497.5:n.224-56C=
ENST00000646564.1:c.124-12166C= ENSP00000495806.1:n.124-12166C=
ENST00000155840.9:c.605-56C= ENSP00000155840.2:n.605-56C=
ENST00000335475.5:c.224-56C= ENSP00000334497.5:n.224-56C=
ENST00000496887.6:c.344-56C= ENSP00000434560.1:n.344-56C=
NM_000218.2:c.605-56C= , LRG_287t1:c.605-56C= NP_000209.2:n.605-56C=
NM_181798.1:c.224-56C= , LRG_287t2:c.224-56C= NP_861463.1:n.224-56C=
NM_000218.3:c.605-56C= MANE Select NP_000209.2:n.605-56C=