Canonical Allele Identifier: CA2574332623
Gene: KCNQ4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.40784194_40784203del , CM000663.2:g.40784194_40784203del GRCh38
NC_000001.10:g.41249866_41249875del , CM000663.1:g.41249866_41249875del GRCh37
NC_000001.9:g.41022453_41022462del NCBI36
NG_008139.1:g.5183_5192del
NG_008139.2:g.5183_5192del
NG_008139.3:g.5408_5417del

Transcript Alleles

HGVS Amino-acid Change
ENST00000347132.10:c.101_110del MANE Select ENSP00000262916.6:p.Gly34AlafsTer?
ENST00000347132.9:c.101_110del ENSP00000262916.6:p.Gly34AlafsTer?
ENST00000509682.6:c.101_110del ENSP00000423756.2:p.Gly34AlafsTer?
NM_004700.3:c.101_110del NP_004691.2:p.Gly34AlafsTer?
NM_172163.2:c.101_110del NP_751895.1:p.Gly34AlafsTer?
XM_011542417.1:c.101_110del XP_011540719.1:p.Gly34AlafsTer?
XM_011542418.1:c.101_110del XP_011540720.1:p.Gly34AlafsTer?
XM_011542419.1:c.101_110del XP_011540721.1:p.Gly34AlafsTer?
XM_011542420.1:c.101_110del XP_011540722.1:p.Gly34AlafsTer?
XR_946798.1:n.107_116del
XR_946799.1:n.107_116del
XR_946800.1:n.107_116del
NM_004700.4:c.101_110del MANE Select NP_004691.2:p.Gly34AlafsTer?
NM_172163.3:c.101_110del NP_751895.1:p.Gly34AlafsTer?