Canonical Allele Identifier: CA340536
Gene: KCNQ4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.40784305_40784317del , CM000663.2:g.40784305_40784317del GRCh38
NC_000001.10:g.41249977_41249989del , CM000663.1:g.41249977_41249989del GRCh37
NC_000001.9:g.41022564_41022576del NCBI36
NG_008139.1:g.5294_5306del
NG_008139.2:g.5294_5306del
NG_008139.3:g.5519_5531del

Transcript Alleles

HGVS Amino-acid Change
ENST00000347132.10:c.212_224del MANE Select ENSP00000262916.6:p.Gln71ProfsTer?
ENST00000347132.9:c.212_224del ENSP00000262916.6:p.Gln71ProfsTer?
ENST00000509682.6:c.212_224del ENSP00000423756.2:p.Gln71ProfsTer?
NM_004700.3:c.212_224del NP_004691.2:p.Gln71ProfsTer?
NM_172163.2:c.212_224del NP_751895.1:p.Gln71ProfsTer?
XM_011542417.1:c.212_224del XP_011540719.1:p.Gln71ProfsTer?
XM_011542418.1:c.212_224del XP_011540720.1:p.Gln71ProfsTer?
XM_011542419.1:c.212_224del XP_011540721.1:p.Gln71ProfsTer?
XM_011542420.1:c.212_224del XP_011540722.1:p.Gln71ProfsTer?
XR_946798.1:n.218_230del
XR_946799.1:n.218_230del
XR_946800.1:n.218_230del
NM_004700.4:c.212_224del MANE Select NP_004691.2:p.Gln71ProfsTer?
NM_172163.3:c.212_224del NP_751895.1:p.Gln71ProfsTer?