Canonical Allele Identifier: CA1948334787
Gene: KCNQ1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2818519C= , CM000673.2:g.2818519C= GRCh38
NC_000011.9:g.2839749C= , CM000673.1:g.2839749C= GRCh37
NC_000011.8:g.2796325C= NCBI36
NG_008935.1:g.378529C= , LRG_287:g.378529C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000496887.7:c.1438-29248C= ENSP00000434560.2:n.1438-29248C=
ENST00000646564.2:c.1255-21197C= ENSP00000495806.2:n.1255-21197C=
ENST00000155840.12:c.1795-29248C= MANE Select ENSP00000155840.2:n.1795-29248C=
ENST00000335475.6:c.1414-29248C= ENSP00000334497.5:n.1414-29248C=
ENST00000526095.2:c.199-29248C= ENSP00000494939.1:n.199-29248C=
ENST00000646564.1:c.901-21197C= ENSP00000495806.1:n.901-21197C=
ENST00000155840.9:c.1795-29248C= ENSP00000155840.2:n.1795-29248C=
ENST00000335475.5:c.1414-29248C= ENSP00000334497.5:n.1414-29248C=
ENST00000526095.1:n.302-29248C=
NM_000218.2:c.1795-29248C= , LRG_287t1:c.1795-29248C= NP_000209.2:n.1795-29248C=
NM_181798.1:c.1414-29248C= , LRG_287t2:c.1414-29248C= NP_861463.1:n.1414-29248C=
NM_000218.3:c.1795-29248C= MANE Select NP_000209.2:n.1795-29248C=