Canonical Allele Identifier: CA1164549903
Gene: KCNQ4 HGNC NCBI

Linked Data

dbSNP Id: rs1648616790

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.40830728_40830739del , CM000663.2:g.40830728_40830739del GRCh38
NC_000001.10:g.41296400_41296411del , CM000663.1:g.41296400_41296411del GRCh37
NC_000001.9:g.41068987_41068998del NCBI36
NG_008139.1:g.51717_51728del
NG_008139.2:g.51717_51728del
NG_008139.3:g.51942_51953del

Transcript Alleles

HGVS Amino-acid Change
ENST00000347132.10:c.1293-356_1293-345del MANE Select ENSP00000262916.6:n.1293-356_1293-345del
ENST00000347132.9:c.1293-356_1293-345del ENSP00000262916.6:n.1293-356_1293-345del
ENST00000443478.3:c.874-356_874-345del
ENST00000506017.1:n.612-356_612-345del
ENST00000509682.6:c.1131-356_1131-345del ENSP00000423756.2:n.1131-356_1131-345del
NM_004700.3:c.1293-356_1293-345del NP_004691.2:n.1293-356_1293-345del
NM_172163.2:c.1131-356_1131-345del NP_751895.1:n.1131-356_1131-345del
XM_011542418.1:c.1246_1257del XP_011540720.1:p.Pro416_Cys419del
XR_946798.1:n.1299-356_1299-345del
XR_946799.1:n.1299-356_1299-345del
XR_946800.1:n.1048-356_1048-345del
XM_017002792.1:c.276-356_276-345del XP_016858281.1:n.276-356_276-345del
NM_004700.4:c.1293-356_1293-345del MANE Select NP_004691.2:n.1293-356_1293-345del
NM_172163.3:c.1131-356_1131-345del NP_751895.1:n.1131-356_1131-345del