Canonical Allele Identifier: CA2695743791

Gene: KCNQ4

Linked Data

• dbSNP Id: rs2148329485

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40830758_40830760del , CM000663.2:g.40830758_40830760del	GRCh38
NC_000001.10:g.41296430_41296432del , CM000663.1:g.41296430_41296432del	GRCh37
NC_000001.9:g.41069017_41069019del	NCBI36
NG_008139.1:g.51747_51749del
NG_008139.2:g.51747_51749del
NG_008139.3:g.51972_51974del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347132.10:c.1293-326_1293-324del MANE Select	ENSP00000262916.6:n.1293-326_1293-324del
ENST00000347132.9:c.1293-326_1293-324del	ENSP00000262916.6:n.1293-326_1293-324del
ENST00000443478.3:c.874-326_874-324del
ENST00000506017.1:n.612-326_612-324del
ENST00000509682.6:c.1131-326_1131-324del	ENSP00000423756.2:n.1131-326_1131-324del
NM_004700.3:c.1293-326_1293-324del	NP_004691.2:n.1293-326_1293-324del
NM_172163.2:c.1131-326_1131-324del	NP_751895.1:n.1131-326_1131-324del
XM_011542418.1:c.1276_1278del	XP_011540720.1:p.Ile426del
XR_946798.1:n.1299-326_1299-324del
XR_946799.1:n.1299-326_1299-324del
XR_946800.1:n.1048-326_1048-324del
XM_017002792.1:c.276-326_276-324del	XP_016858281.1:n.276-326_276-324del
NM_004700.4:c.1293-326_1293-324del MANE Select	NP_004691.2:n.1293-326_1293-324del
NM_172163.3:c.1131-326_1131-324del	NP_751895.1:n.1131-326_1131-324del