Canonical Allele Identifier: CA1948159861
Gene: KCNQ1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2444693G= , CM000673.2:g.2444693G= GRCh38
NC_000011.9:g.2465923G= , CM000673.1:g.2465923G= GRCh37
NC_000011.8:g.2422499G= NCBI36
NG_008935.1:g.4703G= , LRG_287:g.4703G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000496887.7:c.8G= ENSP00000434560.2:p.Arg3=
ENST00000496887.6:c.8G= ENSP00000434560.1:p.Arg3=