Canonical Allele Identifier: CA2645131372

Gene: KCNQ4

Linked Data

• gnomAD v4: 1-40784235-CTG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40784236_40784237del , CM000663.2:g.40784236_40784237del	GRCh38
NC_000001.10:g.41249908_41249909del , CM000663.1:g.41249908_41249909del	GRCh37
NC_000001.9:g.41022495_41022496del	NCBI36
NG_008139.1:g.5225_5226del
NG_008139.2:g.5225_5226del
NG_008139.3:g.5450_5451del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347132.10:c.143_144del MANE Select	ENSP00000262916.6:p.Leu48ArgfsTer?
ENST00000347132.9:c.143_144del	ENSP00000262916.6:p.Leu48ArgfsTer?
ENST00000509682.6:c.143_144del	ENSP00000423756.2:p.Leu48ArgfsTer?
NM_004700.3:c.143_144del	NP_004691.2:p.Leu48ArgfsTer?
NM_172163.2:c.143_144del	NP_751895.1:p.Leu48ArgfsTer?
XM_011542417.1:c.143_144del	XP_011540719.1:p.Leu48ArgfsTer?
XM_011542418.1:c.143_144del	XP_011540720.1:p.Leu48ArgfsTer?
XM_011542419.1:c.143_144del	XP_011540721.1:p.Leu48ArgfsTer?
XM_011542420.1:c.143_144del	XP_011540722.1:p.Leu48ArgfsTer?
XR_946798.1:n.149_150del
XR_946799.1:n.149_150del
XR_946800.1:n.149_150del
NM_004700.4:c.143_144del MANE Select	NP_004691.2:p.Leu48ArgfsTer?
NM_172163.3:c.143_144del	NP_751895.1:p.Leu48ArgfsTer?