Canonical Allele Identifier: CA735781837

Gene: KCNQ4

Linked Data

• dbSNP Id: rs1162431517
• MyVariant Identifiers: chr1:g.41296558T>G (hg19) ; chr1:g.40830886T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40830886T>G , CM000663.2:g.40830886T>G	GRCh38
NC_000001.10:g.41296558T>G , CM000663.1:g.41296558T>G	GRCh37
NC_000001.9:g.41069145T>G	NCBI36
NG_008139.1:g.51875T>G
NG_008139.2:g.51875T>G
NG_008139.3:g.52100T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347132.10:c.1293-198T>G MANE Select	ENSP00000262916.6:n.1293-198T>G
ENST00000347132.9:c.1293-198T>G	ENSP00000262916.6:n.1293-198T>G
ENST00000443478.3:c.874-198T>G
ENST00000506017.1:n.612-198T>G
ENST00000509682.6:c.1131-198T>G	ENSP00000423756.2:n.1131-198T>G
NM_004700.3:c.1293-198T>G	NP_004691.2:n.1293-198T>G
NM_172163.2:c.1131-198T>G	NP_751895.1:n.1131-198T>G
XM_011542418.1:c.*39T>G	XP_011540720.1:n.*39T>G
XR_946798.1:n.1299-198T>G
XR_946799.1:n.1299-198T>G
XR_946800.1:n.1048-198T>G
XM_017002792.1:c.276-198T>G	XP_016858281.1:n.276-198T>G
NM_004700.4:c.1293-198T>G MANE Select	NP_004691.2:n.1293-198T>G
NM_172163.3:c.1131-198T>G	NP_751895.1:n.1131-198T>G