Canonical Allele Identifier: CA1948160173
Gene: KCNQ1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2444823G= , CM000673.2:g.2444823G= GRCh38
NC_000011.9:g.2466053G= , CM000673.1:g.2466053G= GRCh37
NC_000011.8:g.2422629G= NCBI36
NG_008935.1:g.4833G= , LRG_287:g.4833G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000496887.7:c.23+115G= ENSP00000434560.2:n.23+115G=
ENST00000496887.6:c.23+115G= ENSP00000434560.1:n.23+115G=