Canonical Allele Identifier: CA2645130480

Gene: KCNQ4

Linked Data

• gnomAD v4: 1-40783963-CCCCCGCCGCCCGCGCCCGCCCCGGGTCGCCCCTCTGG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40783969_40784005del , CM000663.2:g.40783969_40784005del	GRCh38
NC_000001.10:g.41249641_41249677del , CM000663.1:g.41249641_41249677del	GRCh37
NC_000001.9:g.41022228_41022264del	NCBI36
NG_008139.1:g.4958_4994del
NG_008139.2:g.4958_4994del
NG_008139.3:g.5183_5219del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347132.10:c.-125_-89del MANE Select	ENSP00000262916.6:n.-125_-89del
NM_004700.4:c.-125_-89del MANE Select	NP_004691.2:n.-125_-89del
NM_172163.3:c.-125_-89del	NP_751895.1:n.-125_-89del