Canonical Allele Identifier: CA21082980

Gene: KCNQ4

Linked Data

• dbSNP Id: rs752597111
• gnomAD v2: 1-41296444-GTC-G
• gnomAD v3: 1-40830772-GTC-G
• gnomAD v4: 1-40830772-GTC-G
• MyVariant Identifiers: chr1:g.41296445_41296446del (hg19) ; chr1:g.40830773_40830774del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40830776_40830777del , CM000663.2:g.40830776_40830777del	GRCh38
NC_000001.10:g.41296448_41296449del , CM000663.1:g.41296448_41296449del	GRCh37
NC_000001.9:g.41069035_41069036del	NCBI36
NG_008139.1:g.51765_51766del
NG_008139.2:g.51765_51766del
NG_008139.3:g.51990_51991del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347132.10:c.1293-308_1293-307del MANE Select	ENSP00000262916.6:n.1293-308_1293-307del
ENST00000347132.9:c.1293-308_1293-307del	ENSP00000262916.6:n.1293-308_1293-307del
ENST00000443478.3:c.874-308_874-307del
ENST00000506017.1:n.612-308_612-307del
ENST00000509682.6:c.1131-308_1131-307del	ENSP00000423756.2:n.1131-308_1131-307del
NM_004700.3:c.1293-308_1293-307del	NP_004691.2:n.1293-308_1293-307del
NM_172163.2:c.1131-308_1131-307del	NP_751895.1:n.1131-308_1131-307del
XM_011542418.1:c.1294_1295del	XP_011540720.1:p.Leu432AspfsTer11
XR_946798.1:n.1299-308_1299-307del
XR_946799.1:n.1299-308_1299-307del
XR_946800.1:n.1048-308_1048-307del
XM_017002792.1:c.276-308_276-307del	XP_016858281.1:n.276-308_276-307del
NM_004700.4:c.1293-308_1293-307del MANE Select	NP_004691.2:n.1293-308_1293-307del
NM_172163.3:c.1131-308_1131-307del	NP_751895.1:n.1131-308_1131-307del