Canonical Allele Identifier: CA2572785506
Gene: KCNQ1 HGNC NCBI

Linked Data

gnomAD v4: 11-2444974-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2444974G>A , CM000673.2:g.2444974G>A GRCh38
NC_000011.9:g.2466204G>A , CM000673.1:g.2466204G>A GRCh37
NC_000011.8:g.2422780G>A NCBI36
NG_008935.1:g.4984G>A , LRG_287:g.4984G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000496887.7:c.23+266G>A ENSP00000434560.2:n.23+266G>A
ENST00000496887.6:c.23+266G>A ENSP00000434560.1:n.23+266G>A