Canonical Allele Identifier: CA2611999315
Gene: KCNQ1 HGNC NCBI

Linked Data

gnomAD v4: 11-2444812-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2444812C>G , CM000673.2:g.2444812C>G GRCh38
NC_000011.9:g.2466042C>G , CM000673.1:g.2466042C>G GRCh37
NC_000011.8:g.2422618C>G NCBI36
NG_008935.1:g.4822C>G , LRG_287:g.4822C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000496887.7:c.23+104C>G ENSP00000434560.2:n.23+104C>G
ENST00000496887.6:c.23+104C>G ENSP00000434560.1:n.23+104C>G