Canonical Allele Identifier: CA216292358

Gene: KCNQ1

Linked Data

• ClinVar Variation Id: 1225723
• ClinVar RCV Id: RCV001611289
• dbSNP Id: rs944443085
• gnomAD v2: 11-2466214-GC-G
• gnomAD v3: 11-2444984-GC-G
• gnomAD v4: 11-2444984-GC-G
• MyVariant Identifiers: chr11:g.2466215del (hg19) ; chr11:g.2444985del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2444990del , CM000673.2:g.2444990del	GRCh38
NC_000011.9:g.2466220del , CM000673.1:g.2466220del	GRCh37
NC_000011.8:g.2422796del	NCBI36
NG_008935.1:g.5000del , LRG_287:g.5000del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.23+282del	ENSP00000434560.2:n.23+282del
ENST00000496887.6:c.23+282del	ENSP00000434560.1:n.23+282del