Canonical Allele Identifier: CA913189306

Gene: KCNQ4

Linked Data

• ClinVar Variation Id: 625441
• ClinVar RCV Id: RCV000767381
• dbSNP Id: rs1557977732

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40784354_40784362del , CM000663.2:g.40784354_40784362del	GRCh38
NC_000001.10:g.41250026_41250034del , CM000663.1:g.41250026_41250034del	GRCh37
NC_000001.9:g.41022613_41022621del	NCBI36
NG_008139.1:g.5343_5351del
NG_008139.2:g.5343_5351del
NG_008139.3:g.5568_5576del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347132.10:c.261_269del MANE Select	ENSP00000262916.6:p.Tyr88_Val90del
ENST00000347132.9:c.261_269del	ENSP00000262916.6:p.Tyr88_Val90del
ENST00000509682.6:c.261_269del	ENSP00000423756.2:p.Tyr88_Val90del
NM_004700.3:c.261_269del	NP_004691.2:p.Tyr88_Val90del
NM_172163.2:c.261_269del	NP_751895.1:p.Tyr88_Val90del
XM_011542417.1:c.261_269del	XP_011540719.1:p.Tyr88_Val90del
XM_011542418.1:c.261_269del	XP_011540720.1:p.Tyr88_Val90del
XM_011542419.1:c.261_269del	XP_011540721.1:p.Tyr88_Val90del
XM_011542420.1:c.261_269del	XP_011540722.1:p.Tyr88_Val90del
XR_946798.1:n.267_275del
XR_946799.1:n.267_275del
XR_946800.1:n.267_275del
NM_004700.4:c.261_269del MANE Select	NP_004691.2:p.Tyr88_Val90del
NM_172163.3:c.261_269del	NP_751895.1:p.Tyr88_Val90del