Canonical Allele Identifier: CA794808

Gene: KCNQ4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40824198G>A , CM000663.2:g.40824198G>A	GRCh38
NC_000001.10:g.41289870G>A , CM000663.1:g.41289870G>A	GRCh37
NC_000001.9:g.41062457G>A	NCBI36
NG_008139.1:g.45187G>A
NG_008139.2:g.45187G>A
NG_008139.3:g.45412G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_004700.4:c.1232G>A MANE Select	NP_004691.2:p.Arg411His
ENST00000347132.10:c.1232G>A MANE Select	ENSP00000262916.6:p.Arg411His
NM_004700.3:c.1232G>A	NP_004691.2:p.Arg411His
NM_172163.2:c.1130+1796G>A	NP_751895.1:n.1130+1796G>A
NM_172163.3:c.1130+1796G>A	NP_751895.1:n.1130+1796G>A
ENST00000347132.9:c.1232G>A	ENSP00000262916.6:p.Arg411His
ENST00000443478.3:c.816+1796G>A
ENST00000506017.1:n.551G>A
ENST00000509682.6:c.1130+1796G>A	ENSP00000423756.2:n.1130+1796G>A
XM_011542418.1:c.1130+1796G>A	XP_011540720.1:n.1130+1796G>A
XM_011542419.1:c.1131-409G>A	XP_011540721.1:n.1131-409G>A
XM_017002792.1:c.215G>A	XP_016858281.1:p.Arg72His
XR_946798.1:n.1238G>A
XR_946799.1:n.1238G>A
XR_946800.1:n.1047+3938G>A