Canonical Allele Identifier: CA1948242202
Gene: KCNQ1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2571736C= , CM000673.2:g.2571736C= GRCh38
NC_000011.9:g.2592966C= , CM000673.1:g.2592966C= GRCh37
NC_000011.8:g.2549542C= NCBI36
NG_008935.1:g.131746C= , LRG_287:g.131746C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000496887.7:c.423-277C= ENSP00000434560.2:n.423-277C=
ENST00000646564.2:c.478-11699C= ENSP00000495806.2:n.478-11699C=
ENST00000155840.12:c.684-277C= MANE Select ENSP00000155840.2:n.684-277C=
ENST00000335475.6:c.303-277C= ENSP00000334497.5:n.303-277C=
ENST00000646564.1:c.124-11699C= ENSP00000495806.1:n.124-11699C=
ENST00000155840.9:c.684-277C= ENSP00000155840.2:n.684-277C=
ENST00000335475.5:c.303-277C= ENSP00000334497.5:n.303-277C=
ENST00000496887.6:c.423-277C= ENSP00000434560.1:n.423-277C=
NM_000218.2:c.684-277C= , LRG_287t1:c.684-277C= NP_000209.2:n.684-277C=
NM_181798.1:c.303-277C= , LRG_287t2:c.303-277C= NP_861463.1:n.303-277C=
NM_000218.3:c.684-277C= MANE Select NP_000209.2:n.684-277C=