Canonical Allele Identifier: CA2645130453

Gene: KCNQ4

Linked Data

• gnomAD v4: 1-40783950-GCCCGGCCCCTAGCCCCCGCCGCCCGCGCCCGC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40783956_40783987del , CM000663.2:g.40783956_40783987del	GRCh38
NC_000001.10:g.41249628_41249659del , CM000663.1:g.41249628_41249659del	GRCh37
NC_000001.9:g.41022215_41022246del	NCBI36
NG_008139.1:g.4945_4976del
NG_008139.2:g.4945_4976del
NG_008139.3:g.5170_5201del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347132.10:c.-138_-107del MANE Select	ENSP00000262916.6:n.-138_-107del
NM_004700.4:c.-138_-107del MANE Select	NP_004691.2:n.-138_-107del
NM_172163.3:c.-138_-107del	NP_751895.1:n.-138_-107del