Canonical Allele Identifier: CA735781796

Gene: KCNQ4

Linked Data

• dbSNP Id: rs1478042188
• gnomAD v3: 1-40830768-CTG-C
• gnomAD v4: 1-40830768-CTG-C
• MyVariant Identifiers: chr1:g.41296441_41296442del (hg19) ; chr1:g.40830769_40830770del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40830772_40830773del , CM000663.2:g.40830772_40830773del	GRCh38
NC_000001.10:g.41296444_41296445del , CM000663.1:g.41296444_41296445del	GRCh37
NC_000001.9:g.41069031_41069032del	NCBI36
NG_008139.1:g.51761_51762del
NG_008139.2:g.51761_51762del
NG_008139.3:g.51986_51987del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347132.10:c.1293-312_1293-311del MANE Select	ENSP00000262916.6:n.1293-312_1293-311del
ENST00000347132.9:c.1293-312_1293-311del	ENSP00000262916.6:n.1293-312_1293-311del
ENST00000443478.3:c.874-312_874-311del
ENST00000506017.1:n.612-312_612-311del
ENST00000509682.6:c.1131-312_1131-311del	ENSP00000423756.2:n.1131-312_1131-311del
NM_004700.3:c.1293-312_1293-311del	NP_004691.2:n.1293-312_1293-311del
NM_172163.2:c.1131-312_1131-311del	NP_751895.1:n.1131-312_1131-311del
XM_011542418.1:c.1290_1291del	XP_011540720.1:p.Leu432AspfsTer11
XR_946798.1:n.1299-312_1299-311del
XR_946799.1:n.1299-312_1299-311del
XR_946800.1:n.1048-312_1048-311del
XM_017002792.1:c.276-312_276-311del	XP_016858281.1:n.276-312_276-311del
NM_004700.4:c.1293-312_1293-311del MANE Select	NP_004691.2:n.1293-312_1293-311del
NM_172163.3:c.1131-312_1131-311del	NP_751895.1:n.1131-312_1131-311del