Canonical Allele Identifier: CA597098428

Gene: KCNQ1

Linked Data

• dbSNP Id: rs1438182058
• gnomAD v2: 11-2465908-C-T
• gnomAD v3: 11-2444678-C-T
• gnomAD v4: 11-2444678-C-T
• MyVariant Identifiers: chr11:g.2465908C>T (hg19) ; chr11:g.2444678C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2444678C>T , CM000673.2:g.2444678C>T	GRCh38
NC_000011.9:g.2465908C>T , CM000673.1:g.2465908C>T	GRCh37
NC_000011.8:g.2422484C>T	NCBI36
NG_008935.1:g.4688C>T , LRG_287:g.4688C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.-8C>T	ENSP00000434560.2:n.-8C>T