Canonical Allele Identifier: CA135528

Gene: KCNQ4

Linked Data

• ClinVar Variation Id: 45101
• ClinVar RCV Id: RCV000038243 ; RCV001001541 ; RCV002054690
• dbSNP Id: rs34287852
• ExAC: 1:41296828 T / G
• gnomAD v2: 1-41296828-T-G
• gnomAD v3: 1-40831156-T-G
• gnomAD v4: 1-40831156-T-G
• MyVariant Identifiers: chr1:g.41296828T>G (hg19) ; chr1:g.40831156T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40831156T>G , CM000663.2:g.40831156T>G	GRCh38
NC_000001.10:g.41296828T>G , CM000663.1:g.41296828T>G	GRCh37
NC_000001.9:g.41069415T>G	NCBI36
NG_008139.1:g.52145T>G
NG_008139.2:g.52145T>G
NG_008139.3:g.52370T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000347132.10:c.1365T>G MANE Select	ENSP00000262916.6:p.His455Gln
ENST00000347132.9:c.1365T>G	ENSP00000262916.6:p.His455Gln
ENST00000443478.3:c.946T>G
ENST00000506017.1:n.684T>G
ENST00000509682.6:c.1203T>G	ENSP00000423756.2:p.His401Gln
NM_004700.3:c.1365T>G	NP_004691.2:p.His455Gln
NM_172163.2:c.1203T>G	NP_751895.1:p.His401Gln
XR_946798.1:n.1371T>G
XR_946799.1:n.1371T>G
XR_946800.1:n.1120T>G
XM_017002792.1:c.348T>G	XP_016858281.1:p.His116Gln
NM_004700.4:c.1365T>G MANE Select	NP_004691.2:p.His455Gln
NM_172163.3:c.1203T>G	NP_751895.1:p.His401Gln