Canonical Allele Identifier: CA2645130476

Gene: KCNQ4

Linked Data

• gnomAD v4: 1-40783961-AGCCCCCGCCGCCCGCGCCCGCCCCGGGTC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40783967_40783995del , CM000663.2:g.40783967_40783995del	GRCh38
NC_000001.10:g.41249639_41249667del , CM000663.1:g.41249639_41249667del	GRCh37
NC_000001.9:g.41022226_41022254del	NCBI36
NG_008139.1:g.4956_4984del
NG_008139.2:g.4956_4984del
NG_008139.3:g.5181_5209del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347132.10:c.-127_-99del MANE Select	ENSP00000262916.6:n.-127_-99del
NM_004700.4:c.-127_-99del MANE Select	NP_004691.2:n.-127_-99del
NM_172163.3:c.-127_-99del	NP_751895.1:n.-127_-99del