Canonical Allele Identifier: CA347424

Gene: KCNQ4

Linked Data

• ClinVar Variation Id: 208366
• ClinVar RCV Id: RCV000484405 ; RCV000656422 ; RCV001089683 ; RCV000825943
• dbSNP Id: rs797044966
• gnomAD v4: 1-40819438-TCTC-T
• COSMIC: COSM5516155
• MyVariant Identifiers: chr1:g.41285116_41285118del (hg19) ; chr1:g.40819444_40819446del (hg38)
• ERepo: CA347424/MONDO:0019497/005
• PubMed: PMID:20301388 ; PMID:23399560 ; PMID:23443030

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40819444_40819446del , CM000663.2:g.40819444_40819446del	GRCh38
NC_000001.10:g.41285116_41285118del , CM000663.1:g.41285116_41285118del	GRCh37
NC_000001.9:g.41057703_41057705del	NCBI36
NG_008139.1:g.40433_40435del
NG_008139.2:g.40433_40435del
NG_008139.3:g.40658_40660del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347132.10:c.806_808del MANE Select	ENSP00000262916.6:p.Ser269del
ENST00000347132.9:c.806_808del	ENSP00000262916.6:p.Ser269del
ENST00000443478.3:c.492_494del
ENST00000506017.1:n.125_127del
ENST00000509682.6:c.806_808del	ENSP00000423756.2:p.Ser269del
NM_004700.3:c.806_808del	NP_004691.2:p.Ser269del
NM_172163.2:c.806_808del	NP_751895.1:p.Ser269del
XM_011542417.1:c.806_808del	XP_011540719.1:p.Ser269del
XM_011542418.1:c.806_808del	XP_011540720.1:p.Ser269del
XM_011542419.1:c.806_808del	XP_011540721.1:p.Ser269del
XM_011542420.1:c.806_808del	XP_011540722.1:p.Ser269del
XR_946798.1:n.812_814del
XR_946799.1:n.812_814del
XR_946800.1:n.812_814del
XM_017002792.1:c.-212_-210del	XP_016858281.1:n.-212_-210del
NM_004700.4:c.806_808del MANE Select	NP_004691.2:p.Ser269del
NM_172163.3:c.806_808del	NP_751895.1:p.Ser269del