Canonical Allele Identifier: CA1164549963

Gene: KCNQ4

Linked Data

• dbSNP Id: rs1648620614
• gnomAD v3: 1-40830868-G-A
• gnomAD v4: 1-40830868-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40830868G>A , CM000663.2:g.40830868G>A	GRCh38
NC_000001.10:g.41296540G>A , CM000663.1:g.41296540G>A	GRCh37
NC_000001.9:g.41069127G>A	NCBI36
NG_008139.1:g.51857G>A
NG_008139.2:g.51857G>A
NG_008139.3:g.52082G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347132.10:c.1293-216G>A MANE Select	ENSP00000262916.6:n.1293-216G>A
ENST00000347132.9:c.1293-216G>A	ENSP00000262916.6:n.1293-216G>A
ENST00000443478.3:c.874-216G>A
ENST00000506017.1:n.612-216G>A
ENST00000509682.6:c.1131-216G>A	ENSP00000423756.2:n.1131-216G>A
NM_004700.3:c.1293-216G>A	NP_004691.2:n.1293-216G>A
NM_172163.2:c.1131-216G>A	NP_751895.1:n.1131-216G>A
XM_011542418.1:c.*21G>A	XP_011540720.1:n.*21G>A
XR_946798.1:n.1299-216G>A
XR_946799.1:n.1299-216G>A
XR_946800.1:n.1048-216G>A
XM_017002792.1:c.276-216G>A	XP_016858281.1:n.276-216G>A
NM_004700.4:c.1293-216G>A MANE Select	NP_004691.2:n.1293-216G>A
NM_172163.3:c.1131-216G>A	NP_751895.1:n.1131-216G>A