Canonical Allele Identifier: CA1164549930

Gene: KCNQ4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40830768_40830770delinsCTG , CM000663.2:g.40830768_40830770delinsCTG	GRCh38
NC_000001.10:g.41296440_41296442delinsCTG , CM000663.1:g.41296440_41296442delinsCTG	GRCh37
NC_000001.9:g.41069027_41069029delinsCTG	NCBI36
NG_008139.1:g.51757_51759delinsCTG
NG_008139.2:g.51757_51759delinsCTG
NG_008139.3:g.51982_51984delinsCTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347132.10:c.1293-316_1293-314delinsCTG MANE Select	ENSP00000262916.6:n.1293-316_1293-314delinsCTG
ENST00000347132.9:c.1293-316_1293-314delinsCTG	ENSP00000262916.6:n.1293-316_1293-314delinsCTG
ENST00000443478.3:c.874-316_874-314delinsCTG
ENST00000506017.1:n.612-316_612-314delinsCTG
ENST00000509682.6:c.1131-316_1131-314delinsCTG	ENSP00000423756.2:n.1131-316_1131-314delinsCTG
NM_004700.3:c.1293-316_1293-314delinsCTG	NP_004691.2:n.1293-316_1293-314delinsCTG
NM_172163.2:c.1131-316_1131-314delinsCTG	NP_751895.1:n.1131-316_1131-314delinsCTG
XM_011542418.1:c.1286_1288delinsCTG	XP_011540720.1:p.Ser429=
XR_946798.1:n.1299-316_1299-314delinsCTG
XR_946799.1:n.1299-316_1299-314delinsCTG
XR_946800.1:n.1048-316_1048-314delinsCTG
XM_017002792.1:c.276-316_276-314delinsCTG	XP_016858281.1:n.276-316_276-314delinsCTG
NM_004700.4:c.1293-316_1293-314delinsCTG MANE Select	NP_004691.2:n.1293-316_1293-314delinsCTG
NM_172163.3:c.1131-316_1131-314delinsCTG	NP_751895.1:n.1131-316_1131-314delinsCTG