Canonical Allele Identifier: CA674857804

Gene: KCNQ1

Linked Data

• dbSNP Id: rs1261708516
• gnomAD v3: 11-2444929-C-A
• gnomAD v4: 11-2444929-C-A
• MyVariant Identifiers: chr11:g.2466159C>A (hg19) ; chr11:g.2444929C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2444929C>A , CM000673.2:g.2444929C>A	GRCh38
NC_000011.9:g.2466159C>A , CM000673.1:g.2466159C>A	GRCh37
NC_000011.8:g.2422735C>A	NCBI36
NG_008935.1:g.4939C>A , LRG_287:g.4939C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.23+221C>A	ENSP00000434560.2:n.23+221C>A
ENST00000496887.6:c.23+221C>A	ENSP00000434560.1:n.23+221C>A