Canonical Allele Identifier: CA2574332495
Gene: KCNQ4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.40784067_40784069del , CM000663.2:g.40784067_40784069del GRCh38
NC_000001.10:g.41249739_41249741del , CM000663.1:g.41249739_41249741del GRCh37
NC_000001.9:g.41022326_41022328del NCBI36
NG_008139.1:g.5056_5058del
NG_008139.2:g.5056_5058del
NG_008139.3:g.5281_5283del

Transcript Alleles

HGVS Amino-acid Change
ENST00000347132.10:c.-27_-25del MANE Select ENSP00000262916.6:n.-27_-25del
ENST00000347132.9:c.-27_-25del ENSP00000262916.6:n.-27_-25del
NM_004700.3:c.-27_-25del NP_004691.2:n.-27_-25del
NM_172163.2:c.-27_-25del NP_751895.1:n.-27_-25del
NM_004700.4:c.-27_-25del MANE Select NP_004691.2:n.-27_-25del
NM_172163.3:c.-27_-25del NP_751895.1:n.-27_-25del