Canonical Allele Identifier: CA1164550024
Gene: KCNQ4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.40830919_40830920delinsGA , CM000663.2:g.40830919_40830920delinsGA GRCh38
NC_000001.10:g.41296591_41296592delinsGA , CM000663.1:g.41296591_41296592delinsGA GRCh37
NC_000001.9:g.41069178_41069179delinsGA NCBI36
NG_008139.1:g.51908_51909delinsGA
NG_008139.2:g.51908_51909delinsGA
NG_008139.3:g.52133_52134delinsGA

Transcript Alleles

HGVS Amino-acid Change
ENST00000347132.10:c.1293-165_1293-164delinsGA MANE Select ENSP00000262916.6:n.1293-165_1293-164delinsGA
ENST00000347132.9:c.1293-165_1293-164delinsGA ENSP00000262916.6:n.1293-165_1293-164delinsGA
ENST00000443478.3:c.874-165_874-164delinsGA
ENST00000506017.1:n.612-165_612-164delinsGA
ENST00000509682.6:c.1131-165_1131-164delinsGA ENSP00000423756.2:n.1131-165_1131-164delinsGA
NM_004700.3:c.1293-165_1293-164delinsGA NP_004691.2:n.1293-165_1293-164delinsGA
NM_172163.2:c.1131-165_1131-164delinsGA NP_751895.1:n.1131-165_1131-164delinsGA
XM_011542418.1:c.*72_*73delinsGA XP_011540720.1:n.*72_*73delinsGA
XR_946798.1:n.1299-165_1299-164delinsGA
XR_946799.1:n.1299-165_1299-164delinsGA
XR_946800.1:n.1048-165_1048-164delinsGA
XM_017002792.1:c.276-165_276-164delinsGA XP_016858281.1:n.276-165_276-164delinsGA
NM_004700.4:c.1293-165_1293-164delinsGA MANE Select NP_004691.2:n.1293-165_1293-164delinsGA
NM_172163.3:c.1131-165_1131-164delinsGA NP_751895.1:n.1131-165_1131-164delinsGA