Canonical Allele Identifier: CA1164531135

Gene: KCNQ4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40784211_40784213delinsGGC , CM000663.2:g.40784211_40784213delinsGGC	GRCh38
NC_000001.10:g.41249883_41249885delinsGGC , CM000663.1:g.41249883_41249885delinsGGC	GRCh37
NC_000001.9:g.41022470_41022472delinsGGC	NCBI36
NG_008139.1:g.5200_5202delinsGGC
NG_008139.2:g.5200_5202delinsGGC
NG_008139.3:g.5425_5427delinsGGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347132.10:c.118_120delinsGGC MANE Select	ENSP00000262916.6:p.Gly40=
ENST00000347132.9:c.118_120delinsGGC	ENSP00000262916.6:p.Gly40=
ENST00000509682.6:c.118_120delinsGGC	ENSP00000423756.2:p.Gly40=
NM_004700.3:c.118_120delinsGGC	NP_004691.2:p.Gly40=
NM_172163.2:c.118_120delinsGGC	NP_751895.1:p.Gly40=
XM_011542417.1:c.118_120delinsGGC	XP_011540719.1:p.Gly40=
XM_011542418.1:c.118_120delinsGGC	XP_011540720.1:p.Gly40=
XM_011542419.1:c.118_120delinsGGC	XP_011540721.1:p.Gly40=
XM_011542420.1:c.118_120delinsGGC	XP_011540722.1:p.Gly40=
XR_946798.1:n.124_126delinsGGC
XR_946799.1:n.124_126delinsGGC
XR_946800.1:n.124_126delinsGGC
NM_004700.4:c.118_120delinsGGC MANE Select	NP_004691.2:p.Gly40=
NM_172163.3:c.118_120delinsGGC	NP_751895.1:p.Gly40=