Canonical Allele Identifier: CA597098472

Gene: KCNQ1

Linked Data

• dbSNP Id: rs1321380846
• gnomAD v2: 11-2466138-C-T
• gnomAD v3: 11-2444908-C-T
• gnomAD v4: 11-2444908-C-T
• MyVariant Identifiers: chr11:g.2466138C>T (hg19) ; chr11:g.2444908C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2444908C>T , CM000673.2:g.2444908C>T	GRCh38
NC_000011.9:g.2466138C>T , CM000673.1:g.2466138C>T	GRCh37
NC_000011.8:g.2422714C>T	NCBI36
NG_008935.1:g.4918C>T , LRG_287:g.4918C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.23+200C>T	ENSP00000434560.2:n.23+200C>T
ENST00000496887.6:c.23+200C>T	ENSP00000434560.1:n.23+200C>T