Canonical Allele Identifier: CA2574333017

Gene: KCNQ4

Linked Data

• gnomAD v4: 1-40831055-GCT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40831061_40831062del , CM000663.2:g.40831061_40831062del	GRCh38
NC_000001.10:g.41296733_41296734del , CM000663.1:g.41296733_41296734del	GRCh37
NC_000001.9:g.41069320_41069321del	NCBI36
NG_008139.1:g.52050_52051del
NG_008139.2:g.52050_52051del
NG_008139.3:g.52275_52276del

Transcript Alleles

HGVS	Amino-acid change
ENST00000347132.10:c.1293-23_1293-22del MANE Select	ENSP00000262916.6:n.1293-23_1293-22del
ENST00000347132.9:c.1293-23_1293-22del	ENSP00000262916.6:n.1293-23_1293-22del
ENST00000443478.3:c.874-23_874-22del
ENST00000506017.1:n.612-23_612-22del
ENST00000509682.6:c.1131-23_1131-22del	ENSP00000423756.2:n.1131-23_1131-22del
NM_004700.3:c.1293-23_1293-22del	NP_004691.2:n.1293-23_1293-22del
NM_172163.2:c.1131-23_1131-22del	NP_751895.1:n.1131-23_1131-22del
XM_011542418.1:c.*214_*215del	XP_011540720.1:n.*214_*215del
XR_946798.1:n.1299-23_1299-22del
XR_946799.1:n.1299-23_1299-22del
XR_946800.1:n.1048-23_1048-22del
XM_017002792.1:c.276-23_276-22del	XP_016858281.1:n.276-23_276-22del
NM_004700.4:c.1293-23_1293-22del MANE Select	NP_004691.2:n.1293-23_1293-22del
NM_172163.3:c.1131-23_1131-22del	NP_751895.1:n.1131-23_1131-22del