Canonical Allele Identifier: CA2611999249
Gene: KCNQ1 HGNC NCBI

Linked Data

gnomAD v4: 11-2444763-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2444763G>T , CM000673.2:g.2444763G>T GRCh38
NC_000011.9:g.2465993G>T , CM000673.1:g.2465993G>T GRCh37
NC_000011.8:g.2422569G>T NCBI36
NG_008935.1:g.4773G>T , LRG_287:g.4773G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000496887.7:c.23+55G>T ENSP00000434560.2:n.23+55G>T
ENST00000496887.6:c.23+55G>T ENSP00000434560.1:n.23+55G>T