Canonical Allele Identifier: CA735790672

Gene: KCNQ4

Linked Data

• dbSNP Id: rs1162696106
• gnomAD v3: 1-40819456-C-CGCTCT
• gnomAD v4: 1-40819456-C-CGCTCT
• MyVariant Identifiers: chr1:g.41285128_41285129insGCTCT (hg19) ; chr1:g.40819456_40819457insGCTCT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40819458_40819462dup , CM000663.2:g.40819458_40819462dup	GRCh38
NC_000001.10:g.41285130_41285134dup , CM000663.1:g.41285130_41285134dup	GRCh37
NC_000001.9:g.41057717_41057721dup	NCBI36
NG_008139.1:g.40447_40451dup
NG_008139.2:g.40447_40451dup
NG_008139.3:g.40672_40676dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000347132.10:c.820_824dup MANE Select	ENSP00000262916.6:p.Trp275CysfsTer9
ENST00000347132.9:c.820_824dup	ENSP00000262916.6:p.Trp275CysfsTer9
ENST00000443478.3:c.506_510dup
ENST00000506017.1:n.139_143dup
ENST00000509682.6:c.820_824dup	ENSP00000423756.2:p.Trp275CysfsTer9
NM_004700.3:c.820_824dup	NP_004691.2:p.Trp275CysfsTer9
NM_172163.2:c.820_824dup	NP_751895.1:p.Trp275CysfsTer9
XM_011542417.1:c.820_824dup	XP_011540719.1:p.Trp275CysfsTer9
XM_011542418.1:c.820_824dup	XP_011540720.1:p.Trp275CysfsTer9
XM_011542419.1:c.820_824dup	XP_011540721.1:p.Trp275CysfsTer9
XM_011542420.1:c.820_824dup	XP_011540722.1:p.Trp275CysfsTer9
XR_946798.1:n.826_830dup
XR_946799.1:n.826_830dup
XR_946800.1:n.826_830dup
XM_017002792.1:c.-198_-194dup	XP_016858281.1:n.-198_-194dup
NM_004700.4:c.820_824dup MANE Select	NP_004691.2:p.Trp275CysfsTer9
NM_172163.3:c.820_824dup	NP_751895.1:p.Trp275CysfsTer9