Canonical Allele Identifier: CA1140627007
Gene: KCNQ4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.40835010C= , CM000663.2:g.40835010C= GRCh38
NC_000001.10:g.41300682C= , CM000663.1:g.41300682C= GRCh37
NC_000001.9:g.41073269C= NCBI36
NG_008139.1:g.55999C=
NG_008139.2:g.55999C=
NG_008139.3:g.56224C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000347132.10:c.1657C= MANE Select ENSP00000262916.6:p.Leu553=
ENST00000347132.9:c.1657C= ENSP00000262916.6:p.Leu553=
ENST00000443478.3:c.1238C=
ENST00000506017.1:n.976C=
ENST00000509682.6:c.1495C= ENSP00000423756.2:p.Leu499=
NM_004700.3:c.1657C= NP_004691.2:p.Leu553=
NM_172163.2:c.1495C= NP_751895.1:p.Leu499=
XR_946798.1:n.1679C=
XR_946799.1:n.1679C=
XR_946800.1:n.1412C=
XM_017002792.1:c.640C= XP_016858281.1:p.Leu214=
NM_004700.4:c.1657C= MANE Select NP_004691.2:p.Leu553=
NM_172163.3:c.1495C= NP_751895.1:p.Leu499=