Canonical Allele Identifier: CA1948160290
Gene: KCNQ1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2444880G= , CM000673.2:g.2444880G= GRCh38
NC_000011.9:g.2466110G= , CM000673.1:g.2466110G= GRCh37
NC_000011.8:g.2422686G= NCBI36
NG_008935.1:g.4890G= , LRG_287:g.4890G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000496887.7:c.23+172G= ENSP00000434560.2:n.23+172G=
ENST00000496887.6:c.23+172G= ENSP00000434560.1:n.23+172G=