Canonical Allele Identifier: CA522437364

Gene: KCNQ4

Linked Data

• dbSNP Id: rs771982195
• gnomAD v2: 1-41300601-C-G
• gnomAD v4: 1-40834929-C-G
• MyVariant Identifiers: chr1:g.41300601C>G (hg19) ; chr1:g.40834929C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40834929C>G , CM000663.2:g.40834929C>G	GRCh38
NC_000001.10:g.41300601C>G , CM000663.1:g.41300601C>G	GRCh37
NC_000001.9:g.41073188C>G	NCBI36
NG_008139.1:g.55918C>G
NG_008139.2:g.55918C>G
NG_008139.3:g.56143C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347132.10:c.1614-38C>G MANE Select	ENSP00000262916.6:n.1614-38C>G
ENST00000347132.9:c.1614-38C>G	ENSP00000262916.6:n.1614-38C>G
ENST00000443478.3:c.1195-38C>G
ENST00000506017.1:n.933-38C>G
ENST00000509682.6:c.1452-38C>G	ENSP00000423756.2:n.1452-38C>G
NM_004700.3:c.1614-38C>G	NP_004691.2:n.1614-38C>G
NM_172163.2:c.1452-38C>G	NP_751895.1:n.1452-38C>G
XR_946798.1:n.1620-22C>G
XR_946799.1:n.1620-22C>G
XR_946800.1:n.1369-38C>G
XM_017002792.1:c.597-38C>G	XP_016858281.1:n.597-38C>G
NM_004700.4:c.1614-38C>G MANE Select	NP_004691.2:n.1614-38C>G
NM_172163.3:c.1452-38C>G	NP_751895.1:n.1452-38C>G