Canonical Allele Identifier: CA1164549927

Gene: KCNQ4

Linked Data

• dbSNP Id: rs1648618069
• gnomAD v3: 1-40830755-C-G
• gnomAD v4: 1-40830755-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40830755C>G , CM000663.2:g.40830755C>G	GRCh38
NC_000001.10:g.41296427C>G , CM000663.1:g.41296427C>G	GRCh37
NC_000001.9:g.41069014C>G	NCBI36
NG_008139.1:g.51744C>G
NG_008139.2:g.51744C>G
NG_008139.3:g.51969C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347132.10:c.1293-329C>G MANE Select	ENSP00000262916.6:n.1293-329C>G
ENST00000347132.9:c.1293-329C>G	ENSP00000262916.6:n.1293-329C>G
ENST00000443478.3:c.874-329C>G
ENST00000506017.1:n.612-329C>G
ENST00000509682.6:c.1131-329C>G	ENSP00000423756.2:n.1131-329C>G
NM_004700.3:c.1293-329C>G	NP_004691.2:n.1293-329C>G
NM_172163.2:c.1131-329C>G	NP_751895.1:n.1131-329C>G
XM_011542418.1:c.1273C>G	XP_011540720.1:p.His425Asp
XR_946798.1:n.1299-329C>G
XR_946799.1:n.1299-329C>G
XR_946800.1:n.1048-329C>G
XM_017002792.1:c.276-329C>G	XP_016858281.1:n.276-329C>G
NM_004700.4:c.1293-329C>G MANE Select	NP_004691.2:n.1293-329C>G
NM_172163.3:c.1131-329C>G	NP_751895.1:n.1131-329C>G