Canonical Allele Identifier: CA1948160019
Gene: KCNQ1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2444746C= , CM000673.2:g.2444746C= GRCh38
NC_000011.9:g.2465976C= , CM000673.1:g.2465976C= GRCh37
NC_000011.8:g.2422552C= NCBI36
NG_008935.1:g.4756C= , LRG_287:g.4756C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000496887.7:c.23+38C= ENSP00000434560.2:n.23+38C=
ENST00000496887.6:c.23+38C= ENSP00000434560.1:n.23+38C=