Canonical Allele Identifier: CA135541

Gene: KCNQ4

Linked Data

• ClinVar Variation Id: 45108
• ClinVar RCV Id: RCV000038250 ; RCV002054693 ; RCV003445112
• dbSNP Id: rs12143503
• ExAC: 1:41285591 A / G
• gnomAD v2: 1-41285591-A-G
• gnomAD v3: 1-40819919-A-G
• gnomAD v4: 1-40819919-A-G
• MyVariant Identifiers: chr1:g.41285591A>G (hg19) ; chr1:g.40819919A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40819919A>G , CM000663.2:g.40819919A>G	GRCh38
NC_000001.10:g.41285591A>G , CM000663.1:g.41285591A>G	GRCh37
NC_000001.9:g.41058178A>G	NCBI36
NG_008139.1:g.40908A>G
NG_008139.2:g.40908A>G
NG_008139.3:g.41133A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347132.10:c.879A>G MANE Select	ENSP00000262916.6:p.Thr293=
ENST00000347132.9:c.879A>G	ENSP00000262916.6:p.Thr293=
ENST00000443478.3:c.565A>G
ENST00000506017.1:n.198A>G
ENST00000509682.6:c.879A>G	ENSP00000423756.2:p.Thr293=
NM_004700.3:c.879A>G	NP_004691.2:p.Thr293=
NM_172163.2:c.879A>G	NP_751895.1:p.Thr293=
XM_011542417.1:c.879A>G	XP_011540719.1:p.Thr293=
XM_011542418.1:c.879A>G	XP_011540720.1:p.Thr293=
XM_011542419.1:c.879A>G	XP_011540721.1:p.Thr293=
XM_011542420.1:c.879A>G	XP_011540722.1:p.Thr293=
XR_946798.1:n.885A>G
XR_946799.1:n.885A>G
XR_946800.1:n.885A>G
XM_017002792.1:c.-139A>G	XP_016858281.1:n.-139A>G
NM_004700.4:c.879A>G MANE Select	NP_004691.2:p.Thr293=
NM_172163.3:c.879A>G	NP_751895.1:p.Thr293=