Canonical Allele Identifier: CA2611999444
Gene: KCNQ1 HGNC NCBI

Linked Data

gnomAD v4: 11-2444950-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2444950C>A , CM000673.2:g.2444950C>A GRCh38
NC_000011.9:g.2466180C>A , CM000673.1:g.2466180C>A GRCh37
NC_000011.8:g.2422756C>A NCBI36
NG_008935.1:g.4960C>A , LRG_287:g.4960C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000496887.7:c.23+242C>A ENSP00000434560.2:n.23+242C>A
ENST00000496887.6:c.23+242C>A ENSP00000434560.1:n.23+242C>A