Canonical Allele Identifier: CA1164549934

Gene: KCNQ4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40830780_40830782delinsCTT , CM000663.2:g.40830780_40830782delinsCTT	GRCh38
NC_000001.10:g.41296452_41296454delinsCTT , CM000663.1:g.41296452_41296454delinsCTT	GRCh37
NC_000001.9:g.41069039_41069041delinsCTT	NCBI36
NG_008139.1:g.51769_51771delinsCTT
NG_008139.2:g.51769_51771delinsCTT
NG_008139.3:g.51994_51996delinsCTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347132.10:c.1293-304_1293-302delinsCTT MANE Select	ENSP00000262916.6:n.1293-304_1293-302delinsCTT
ENST00000347132.9:c.1293-304_1293-302delinsCTT	ENSP00000262916.6:n.1293-304_1293-302delinsCTT
ENST00000443478.3:c.874-304_874-302delinsCTT
ENST00000506017.1:n.612-304_612-302delinsCTT
ENST00000509682.6:c.1131-304_1131-302delinsCTT	ENSP00000423756.2:n.1131-304_1131-302delinsCTT
NM_004700.3:c.1293-304_1293-302delinsCTT	NP_004691.2:n.1293-304_1293-302delinsCTT
NM_172163.2:c.1131-304_1131-302delinsCTT	NP_751895.1:n.1131-304_1131-302delinsCTT
XM_011542418.1:c.1298_1300delinsCTT	XP_011540720.1:p.Thr433=
XR_946798.1:n.1299-304_1299-302delinsCTT
XR_946799.1:n.1299-304_1299-302delinsCTT
XR_946800.1:n.1048-304_1048-302delinsCTT
XM_017002792.1:c.276-304_276-302delinsCTT	XP_016858281.1:n.276-304_276-302delinsCTT
NM_004700.4:c.1293-304_1293-302delinsCTT MANE Select	NP_004691.2:n.1293-304_1293-302delinsCTT
NM_172163.3:c.1131-304_1131-302delinsCTT	NP_751895.1:n.1131-304_1131-302delinsCTT