Canonical Allele Identifier: CA1630848550
Gene: KCNQ1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2583207A= , CM000673.2:g.2583207A= GRCh38
NC_000011.9:g.2604437A= , CM000673.1:g.2604437A= GRCh37
NC_000011.8:g.2561013A= NCBI36
NG_008935.1:g.143217A= , LRG_287:g.143217A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000496887.7:c.661-228A= ENSP00000434560.2:n.661-228A=
ENST00000646564.2:c.478-228A= ENSP00000495806.2:n.478-228A=
ENST00000155840.12:c.922-228A= MANE Select ENSP00000155840.2:n.922-228A=
ENST00000335475.6:c.541-228A= ENSP00000334497.5:n.541-228A=
ENST00000646564.1:c.124-228A= ENSP00000495806.1:n.124-228A=
ENST00000155840.9:c.922-228A= ENSP00000155840.2:n.922-228A=
ENST00000335475.5:c.541-228A= ENSP00000334497.5:n.541-228A=
NM_000218.2:c.922-228A= , LRG_287t1:c.922-228A= NP_000209.2:n.922-228A=
NM_181798.1:c.541-228A= , LRG_287t2:c.541-228A= NP_861463.1:n.541-228A=
NM_000218.3:c.922-228A= MANE Select NP_000209.2:n.922-228A=