Canonical Allele Identifier: CA674857514
Gene: KCNQ1 HGNC NCBI

Linked Data

dbSNP Id: rs1203086235
gnomAD v3: 11-2444677-G-A
gnomAD v4: 11-2444677-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2444677G>A , CM000673.2:g.2444677G>A GRCh38
NC_000011.9:g.2465907G>A , CM000673.1:g.2465907G>A GRCh37
NC_000011.8:g.2422483G>A NCBI36
NG_008935.1:g.4687G>A , LRG_287:g.4687G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000496887.7:c.-9G>A ENSP00000434560.2:n.-9G>A