Canonical Allele Identifier: CA735790943

Gene: KCNQ4

Linked Data

• dbSNP Id: rs1312504854
• gnomAD v3: 1-40819819-CAA-C
• gnomAD v4: 1-40819819-CAA-C
• MyVariant Identifiers: chr1:g.41285492_41285493del (hg19) ; chr1:g.40819820_40819821del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40819820_40819821del , CM000663.2:g.40819820_40819821del	GRCh38
NC_000001.10:g.41285492_41285493del , CM000663.1:g.41285492_41285493del	GRCh37
NC_000001.9:g.41058079_41058080del	NCBI36
NG_008139.1:g.40809_40810del
NG_008139.2:g.40809_40810del
NG_008139.3:g.41034_41035del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347132.10:c.835-55_835-54del MANE Select	ENSP00000262916.6:n.835-55_835-54del
ENST00000347132.9:c.835-55_835-54del	ENSP00000262916.6:n.835-55_835-54del
ENST00000443478.3:c.521-55_521-54del
ENST00000506017.1:n.154-55_154-54del
ENST00000509682.6:c.835-55_835-54del	ENSP00000423756.2:n.835-55_835-54del
NM_004700.3:c.835-55_835-54del	NP_004691.2:n.835-55_835-54del
NM_172163.2:c.835-55_835-54del	NP_751895.1:n.835-55_835-54del
XM_011542417.1:c.835-55_835-54del	XP_011540719.1:n.835-55_835-54del
XM_011542418.1:c.835-55_835-54del	XP_011540720.1:n.835-55_835-54del
XM_011542419.1:c.835-55_835-54del	XP_011540721.1:n.835-55_835-54del
XM_011542420.1:c.835-55_835-54del	XP_011540722.1:n.835-55_835-54del
XR_946798.1:n.841-55_841-54del
XR_946799.1:n.841-55_841-54del
XR_946800.1:n.841-55_841-54del
XM_017002792.1:c.-183-55_-183-54del	XP_016858281.1:n.-183-55_-183-54del
NM_004700.4:c.835-55_835-54del MANE Select	NP_004691.2:n.835-55_835-54del
NM_172163.3:c.835-55_835-54del	NP_751895.1:n.835-55_835-54del