Canonical Allele Identifier: CA674857852

Gene: KCNQ1

Linked Data

• dbSNP Id: rs1260159112
• gnomAD v3: 11-2444976-C-G
• gnomAD v4: 11-2444976-C-G
• MyVariant Identifiers: chr11:g.2466206C>G (hg19) ; chr11:g.2444976C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2444976C>G , CM000673.2:g.2444976C>G	GRCh38
NC_000011.9:g.2466206C>G , CM000673.1:g.2466206C>G	GRCh37
NC_000011.8:g.2422782C>G	NCBI36
NG_008935.1:g.4986C>G , LRG_287:g.4986C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.23+268C>G	ENSP00000434560.2:n.23+268C>G
ENST00000496887.6:c.23+268C>G	ENSP00000434560.1:n.23+268C>G