Canonical Allele Identifier: CA2611999141
Gene: KCNQ1 HGNC NCBI

Linked Data

gnomAD v4: 11-2444666-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2444666G>C , CM000673.2:g.2444666G>C GRCh38
NC_000011.9:g.2465896G>C , CM000673.1:g.2465896G>C GRCh37
NC_000011.8:g.2422472G>C NCBI36
NG_008935.1:g.4676G>C , LRG_287:g.4676G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000496887.7:c.-20G>C ENSP00000434560.2:n.-20G>C