Canonical Allele Identifier: CA674857688
Gene: KCNQ1 HGNC NCBI

Linked Data

dbSNP Id: rs1179668785
gnomAD v3: 11-2444814-T-G
gnomAD v4: 11-2444814-T-G
MyVariant Identifiers: chr11:g.2466044T>G (hg19) chr11:g.2444814T>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2444814T>G , CM000673.2:g.2444814T>G GRCh38
NC_000011.9:g.2466044T>G , CM000673.1:g.2466044T>G GRCh37
NC_000011.8:g.2422620T>G NCBI36
NG_008935.1:g.4824T>G , LRG_287:g.4824T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000496887.7:c.23+106T>G ENSP00000434560.2:n.23+106T>G
ENST00000496887.6:c.23+106T>G ENSP00000434560.1:n.23+106T>G
Search 100 bp 5'
Search 100 bp 3'