Canonical Allele Identifier: CA934454669

Gene: KCNQ1

Linked Data

• gnomAD v3: 11-2444757-GGGGGCGCGGACAGGCCAAGCCAGGGGGTGAGGCGGAGGCAGGGCCAGGCCGGTCCGTGGGGAGAGGGCGGGCCAAGCCGGTGGGCGCGGGCAGGGACGCCCTGTGCGCGCCGGACCGGCGGGGGCGGGGCGTGCAGGCGGGGGC-G
• gnomAD v4: 11-2444757-GGGGGCGCGGACAGGCCAAGCCAGGGGGTGAGGCGGAGGCAGGGCCAGGCCGGTCCGTGGGGAGAGGGCGGGCCAAGCCGGTGGGCGCGGGCAGGGACGCCCTGTGCGCGCCGGACCGGCGGGGGCGGGGCGTGCAGGCGGGGGC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2444763_2444906del , CM000673.2:g.2444763_2444906del	GRCh38
NC_000011.9:g.2465993_2466136del , CM000673.1:g.2465993_2466136del	GRCh37
NC_000011.8:g.2422569_2422712del	NCBI36
NG_008935.1:g.4773_4916del , LRG_287:g.4773_4916del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.23+55_23+198del	ENSP00000434560.2:n.23+55_23+198del
ENST00000496887.6:c.23+55_23+198del	ENSP00000434560.1:n.23+55_23+198del