Canonical Allele Identifier: CA379115627
Gene: KCNQ1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2444705G>A , CM000673.2:g.2444705G>A GRCh38
NC_000011.9:g.2465935G>A , CM000673.1:g.2465935G>A GRCh37
NC_000011.8:g.2422511G>A NCBI36
NG_008935.1:g.4715G>A , LRG_287:g.4715G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000496887.7:c.20G>A ENSP00000434560.2:p.Ser7Asn
ENST00000496887.6:c.20G>A ENSP00000434560.1:p.Ser7Asn