Canonical Allele Identifier: CA2611999417
Gene: KCNQ1 HGNC NCBI

Linked Data

gnomAD v4: 11-2444921-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2444921G>A , CM000673.2:g.2444921G>A GRCh38
NC_000011.9:g.2466151G>A , CM000673.1:g.2466151G>A GRCh37
NC_000011.8:g.2422727G>A NCBI36
NG_008935.1:g.4931G>A , LRG_287:g.4931G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000496887.7:c.23+213G>A ENSP00000434560.2:n.23+213G>A
ENST00000496887.6:c.23+213G>A ENSP00000434560.1:n.23+213G>A