Canonical Allele Identifier: CA674857593
Gene: KCNQ1 HGNC NCBI

Linked Data

dbSNP Id: rs1446170104
gnomAD v3: 11-2444723-G-T
gnomAD v4: 11-2444723-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2444723G>T , CM000673.2:g.2444723G>T GRCh38
NC_000011.9:g.2465953G>T , CM000673.1:g.2465953G>T GRCh37
NC_000011.8:g.2422529G>T NCBI36
NG_008935.1:g.4733G>T , LRG_287:g.4733G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000496887.7:c.23+15G>T ENSP00000434560.2:n.23+15G>T
ENST00000496887.6:c.23+15G>T ENSP00000434560.1:n.23+15G>T