Canonical Allele Identifier: CA2586966449

Gene: KCNQ4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40819449_40819454del , CM000663.2:g.40819449_40819454del	GRCh38
NC_000001.10:g.41285121_41285126del , CM000663.1:g.41285121_41285126del	GRCh37
NC_000001.9:g.41057708_41057713del	NCBI36
NG_008139.1:g.40438_40443del
NG_008139.2:g.40438_40443del
NG_008139.3:g.40663_40668del

Transcript Alleles

HGVS	Amino-acid change
ENST00000347132.10:c.811_816del MANE Select	ENSP00000262916.6:p.Ala271_Asp272del
ENST00000347132.9:c.811_816del	ENSP00000262916.6:p.Ala271_Asp272del
ENST00000443478.3:c.497_502del
ENST00000506017.1:n.130_135del
ENST00000509682.6:c.811_816del	ENSP00000423756.2:p.Ala271_Asp272del
NM_004700.3:c.811_816del	NP_004691.2:p.Ala271_Asp272del
NM_172163.2:c.811_816del	NP_751895.1:p.Ala271_Asp272del
XM_011542417.1:c.811_816del	XP_011540719.1:p.Ala271_Asp272del
XM_011542418.1:c.811_816del	XP_011540720.1:p.Ala271_Asp272del
XM_011542419.1:c.811_816del	XP_011540721.1:p.Ala271_Asp272del
XM_011542420.1:c.811_816del	XP_011540722.1:p.Ala271_Asp272del
XR_946798.1:n.817_822del
XR_946799.1:n.817_822del
XR_946800.1:n.817_822del
XM_017002792.1:c.-207_-202del	XP_016858281.1:n.-207_-202del
NM_004700.4:c.811_816del MANE Select	NP_004691.2:p.Ala271_Asp272del
NM_172163.3:c.811_816del	NP_751895.1:p.Ala271_Asp272del