Canonical Allele Identifier: CA1948239088
Gene: KCNQ1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2570552T= , CM000673.2:g.2570552T= GRCh38
NC_000011.9:g.2591782T= , CM000673.1:g.2591782T= GRCh37
NC_000011.8:g.2548358T= NCBI36
NG_008935.1:g.130562T= , LRG_287:g.130562T=

Transcript Alleles

HGVS Amino-acid change
ENST00000496887.7:c.217-76T= ENSP00000434560.2:n.217-76T=
ENST00000646564.2:c.478-12883T= ENSP00000495806.2:n.478-12883T=
ENST00000155840.12:c.478-76T= MANE Select ENSP00000155840.2:n.478-76T=
ENST00000335475.6:c.97-76T= ENSP00000334497.5:n.97-76T=
ENST00000646564.1:c.124-12883T= ENSP00000495806.1:n.124-12883T=
ENST00000155840.9:c.478-76T= ENSP00000155840.2:n.478-76T=
ENST00000335475.5:c.97-76T= ENSP00000334497.5:n.97-76T=
ENST00000496887.6:c.217-76T= ENSP00000434560.1:n.217-76T=
NM_000218.2:c.478-76T= , LRG_287t1:c.478-76T= NP_000209.2:n.478-76T=
NM_181798.1:c.97-76T= , LRG_287t2:c.97-76T= NP_861463.1:n.97-76T=
NM_000218.3:c.478-76T= MANE Select NP_000209.2:n.478-76T=