Canonical Allele Identifier: CA674857850

Gene: KCNQ1

Linked Data

• dbSNP Id: rs1193659191
• gnomAD v3: 11-2444968-G-A
• gnomAD v4: 11-2444968-G-A
• MyVariant Identifiers: chr11:g.2466198G>A (hg19) ; chr11:g.2444968G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2444968G>A , CM000673.2:g.2444968G>A	GRCh38
NC_000011.9:g.2466198G>A , CM000673.1:g.2466198G>A	GRCh37
NC_000011.8:g.2422774G>A	NCBI36
NG_008935.1:g.4978G>A , LRG_287:g.4978G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.23+260G>A	ENSP00000434560.2:n.23+260G>A
ENST00000496887.6:c.23+260G>A	ENSP00000434560.1:n.23+260G>A