Canonical Allele Identifier: CA794932

Gene: KCNQ4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40833073G>A , CM000663.2:g.40833073G>A	GRCh38
NC_000001.10:g.41298745G>A , CM000663.1:g.41298745G>A	GRCh37
NC_000001.9:g.41071332G>A	NCBI36
NG_008139.1:g.54062G>A
NG_008139.2:g.54062G>A
NG_008139.3:g.54287G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_004700.4:c.1573G>A MANE Select	NP_004691.2:p.Asp525Asn
ENST00000347132.10:c.1573G>A MANE Select	ENSP00000262916.6:p.Asp525Asn
NM_004700.3:c.1573G>A	NP_004691.2:p.Asp525Asn
NM_172163.2:c.1411G>A	NP_751895.1:p.Asp471Asn
NM_172163.3:c.1411G>A	NP_751895.1:p.Asp471Asn
ENST00000347132.9:c.1573G>A	ENSP00000262916.6:p.Asp525Asn
ENST00000443478.3:c.1154G>A
ENST00000506017.1:n.892G>A
ENST00000509682.6:c.1411G>A	ENSP00000423756.2:p.Asp471Asn
XM_017002792.1:c.556G>A	XP_016858281.1:p.Asp186Asn
XR_946798.1:n.1579G>A
XR_946799.1:n.1579G>A
XR_946800.1:n.1328G>A