Canonical Allele Identifier: CA794920

Gene: KCNQ4

Linked Data

• ClinVar Variation Id: 504605
• ClinVar RCV Id: RCV000615810 ; RCV003225096 ; RCV003446173
• dbSNP Id: rs145732892
• ExAC: 1:41298689 C / T
• gnomAD v2: 1-41298689-C-T
• gnomAD v3: 1-40833017-C-T
• gnomAD v4: 1-40833017-C-T
• MyVariant Identifiers: chr1:g.41298689C>T (hg19) ; chr1:g.40833017C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40833017C>T , CM000663.2:g.40833017C>T	GRCh38
NC_000001.10:g.41298689C>T , CM000663.1:g.41298689C>T	GRCh37
NC_000001.9:g.41071276C>T	NCBI36
NG_008139.1:g.54006C>T
NG_008139.2:g.54006C>T
NG_008139.3:g.54231C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347132.10:c.1517C>T MANE Select	ENSP00000262916.6:p.Ala506Val
ENST00000347132.9:c.1517C>T	ENSP00000262916.6:p.Ala506Val
ENST00000443478.3:c.1098C>T
ENST00000506017.1:n.836C>T
ENST00000509682.6:c.1355C>T	ENSP00000423756.2:p.Ala452Val
NM_004700.3:c.1517C>T	NP_004691.2:p.Ala506Val
NM_172163.2:c.1355C>T	NP_751895.1:p.Ala452Val
XR_946798.1:n.1523C>T
XR_946799.1:n.1523C>T
XR_946800.1:n.1272C>T
XM_017002792.1:c.500C>T	XP_016858281.1:p.Ala167Val
NM_004700.4:c.1517C>T MANE Select	NP_004691.2:p.Ala506Val
NM_172163.3:c.1355C>T	NP_751895.1:p.Ala452Val