Canonical Allele Identifier: CA342055

Gene: KCNQ4

Linked Data

• ClinVar Variation Id: 21426
• ClinVar RCV Id: RCV000655886 ; RCV001794461
• dbSNP Id: rs80358274
• MyVariant Identifiers: chr1:g.41285088G>A (hg19) ; chr1:g.40819416G>A (hg38)
• PubMed: PMID:20301388

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40819416G>A , CM000663.2:g.40819416G>A	GRCh38
NC_000001.10:g.41285088G>A , CM000663.1:g.41285088G>A	GRCh37
NC_000001.9:g.41057675G>A	NCBI36
NG_008139.1:g.40405G>A
NG_008139.2:g.40405G>A
NG_008139.3:g.40630G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347132.10:c.778G>A MANE Select	ENSP00000262916.6:p.Glu260Lys
ENST00000347132.9:c.778G>A	ENSP00000262916.6:p.Glu260Lys
ENST00000443478.3:c.464G>A
ENST00000506017.1:n.97G>A
ENST00000509682.6:c.778G>A	ENSP00000423756.2:p.Glu260Lys
NM_004700.3:c.778G>A	NP_004691.2:p.Glu260Lys
NM_172163.2:c.778G>A	NP_751895.1:p.Glu260Lys
XM_011542417.1:c.778G>A	XP_011540719.1:p.Glu260Lys
XM_011542418.1:c.778G>A	XP_011540720.1:p.Glu260Lys
XM_011542419.1:c.778G>A	XP_011540721.1:p.Glu260Lys
XM_011542420.1:c.778G>A	XP_011540722.1:p.Glu260Lys
XR_946798.1:n.784G>A
XR_946799.1:n.784G>A
XR_946800.1:n.784G>A
XM_017002792.1:c.-240G>A	XP_016858281.1:n.-240G>A
NM_004700.4:c.778G>A MANE Select	NP_004691.2:p.Glu260Lys
NM_172163.3:c.778G>A	NP_751895.1:p.Glu260Lys