Canonical Allele Identifier: CA794465
Gene: KCNQ4 HGNC NCBI

Linked Data

dbSNP Id: rs748123571

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.40784322_40784323insT , CM000663.2:g.40784322_40784323insT GRCh38
NC_000001.10:g.41249994_41249995insT , CM000663.1:g.41249994_41249995insT GRCh37
NC_000001.9:g.41022581_41022582insT NCBI36
NG_008139.1:g.5311_5312insT
NG_008139.2:g.5311_5312insT
NG_008139.3:g.5536_5537insT

Transcript Alleles

HGVS Amino-acid Change
ENST00000347132.10:c.229_230insT MANE Select ENSP00000262916.6:p.His77LeufsTer?
ENST00000347132.9:c.229_230insT ENSP00000262916.6:p.His77LeufsTer?
ENST00000509682.6:c.229_230insT ENSP00000423756.2:p.His77LeufsTer?
NM_004700.3:c.229_230insT NP_004691.2:p.His77LeufsTer?
NM_172163.2:c.229_230insT NP_751895.1:p.His77LeufsTer?
XM_011542417.1:c.229_230insT XP_011540719.1:p.His77LeufsTer?
XM_011542418.1:c.229_230insT XP_011540720.1:p.His77LeufsTer?
XM_011542419.1:c.229_230insT XP_011540721.1:p.His77LeufsTer?
XM_011542420.1:c.229_230insT XP_011540722.1:p.His77LeufsTer?
XR_946798.1:n.235_236insT
XR_946799.1:n.235_236insT
XR_946800.1:n.235_236insT
NM_004700.4:c.229_230insT MANE Select NP_004691.2:p.His77LeufsTer?
NM_172163.3:c.229_230insT NP_751895.1:p.His77LeufsTer?