Canonical Allele Identifier: CA2574728004
Gene: KCNQ1 HGNC NCBI

Linked Data

gnomAD v4: 11-2445005-A-T

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2445005A>T , CM000673.2:g.2445005A>T GRCh38
NC_000011.9:g.2466235A>T , CM000673.1:g.2466235A>T GRCh37
NC_000011.8:g.2422811A>T NCBI36
NG_008935.1:g.5015A>T , LRG_287:g.5015A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000496887.7:c.23+297A>T ENSP00000434560.2:n.23+297A>T
ENST00000155840.9:c.-94A>T ENSP00000155840.2:n.-94A>T
ENST00000496887.6:c.23+297A>T ENSP00000434560.1:n.23+297A>T
NM_000218.2:c.-94A>T , LRG_287t1:c.-94A>T NP_000209.2:n.-94A>T