Canonical Allele Identifier: CA2611999255
Gene: KCNQ1 HGNC NCBI

Linked Data

gnomAD v4: 11-2444775-A-C

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2444775A>C , CM000673.2:g.2444775A>C GRCh38
NC_000011.9:g.2466005A>C , CM000673.1:g.2466005A>C GRCh37
NC_000011.8:g.2422581A>C NCBI36
NG_008935.1:g.4785A>C , LRG_287:g.4785A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000496887.7:c.23+67A>C ENSP00000434560.2:n.23+67A>C
ENST00000496887.6:c.23+67A>C ENSP00000434560.1:n.23+67A>C