Canonical Allele Identifier: CA2611999420
Gene: KCNQ1 HGNC NCBI

Linked Data

gnomAD v4: 11-2444924-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2444924C>T , CM000673.2:g.2444924C>T GRCh38
NC_000011.9:g.2466154C>T , CM000673.1:g.2466154C>T GRCh37
NC_000011.8:g.2422730C>T NCBI36
NG_008935.1:g.4934C>T , LRG_287:g.4934C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000496887.7:c.23+216C>T ENSP00000434560.2:n.23+216C>T
ENST00000496887.6:c.23+216C>T ENSP00000434560.1:n.23+216C>T