Canonical Allele Identifier: CA379115649
Gene: KCNQ1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2444710T>A , CM000673.2:g.2444710T>A GRCh38
NC_000011.9:g.2465940T>A , CM000673.1:g.2465940T>A GRCh37
NC_000011.8:g.2422516T>A NCBI36
NG_008935.1:g.4720T>A , LRG_287:g.4720T>A

Transcript Alleles

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