Canonical Allele Identifier: CA934462703
Gene: KCNQ1 HGNC NCBI

Linked Data

gnomAD v3: 11-2583207-A-T
gnomAD v4: 11-2583207-A-T

Genomic Alleles

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

Transcript Alleles

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