Canonical Allele Identifier: CA379115636
Gene: KCNQ1 HGNC NCBI

Linked Data

gnomAD v3: 11-2444707-A-C
gnomAD v4: 11-2444707-A-C

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2444707A>C , CM000673.2:g.2444707A>C GRCh38
NC_000011.9:g.2465937A>C , CM000673.1:g.2465937A>C GRCh37
NC_000011.8:g.2422513A>C NCBI36
NG_008935.1:g.4717A>C , LRG_287:g.4717A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000496887.7:c.22A>C ENSP00000434560.2:p.Ser8Arg
ENST00000496887.6:c.22A>C ENSP00000434560.1:p.Ser8Arg