Canonical Allele Identifier: CA522437366

Gene: KCNQ4

Linked Data

• dbSNP Id: rs1489452474
• gnomAD v2: 1-41300612-C-A
• gnomAD v4: 1-40834940-C-A
• MyVariant Identifiers: chr1:g.41300612C>A (hg19) ; chr1:g.40834940C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40834940C>A , CM000663.2:g.40834940C>A	GRCh38
NC_000001.10:g.41300612C>A , CM000663.1:g.41300612C>A	GRCh37
NC_000001.9:g.41073199C>A	NCBI36
NG_008139.1:g.55929C>A
NG_008139.2:g.55929C>A
NG_008139.3:g.56154C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000347132.10:c.1614-27C>A MANE Select	ENSP00000262916.6:n.1614-27C>A
ENST00000347132.9:c.1614-27C>A	ENSP00000262916.6:n.1614-27C>A
ENST00000443478.3:c.1195-27C>A
ENST00000506017.1:n.933-27C>A
ENST00000509682.6:c.1452-27C>A	ENSP00000423756.2:n.1452-27C>A
NM_004700.3:c.1614-27C>A	NP_004691.2:n.1614-27C>A
NM_172163.2:c.1452-27C>A	NP_751895.1:n.1452-27C>A
XR_946798.1:n.1620-11C>A
XR_946799.1:n.1620-11C>A
XR_946800.1:n.1369-27C>A
XM_017002792.1:c.597-27C>A	XP_016858281.1:n.597-27C>A
NM_004700.4:c.1614-27C>A MANE Select	NP_004691.2:n.1614-27C>A
NM_172163.3:c.1452-27C>A	NP_751895.1:n.1452-27C>A