Canonical Allele Identifier: CA1948160009
Gene: KCNQ1 HGNC NCBI

Linked Data

dbSNP Id: rs45513494

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2444743dup , CM000673.2:g.2444743dup GRCh38
NC_000011.9:g.2465973dup , CM000673.1:g.2465973dup GRCh37
NC_000011.8:g.2422549dup NCBI36
NG_008935.1:g.4753dup , LRG_287:g.4753dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000496887.7:c.23+35dup ENSP00000434560.2:n.23+35dup
ENST00000496887.6:c.23+35dup ENSP00000434560.1:n.23+35dup