Canonical Allele Identifier: CA1164551680
Gene: KCNQ4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.40835014G= , CM000663.2:g.40835014G= GRCh38
NC_000001.10:g.41300686G= , CM000663.1:g.41300686G= GRCh37
NC_000001.9:g.41073273G= NCBI36
NG_008139.1:g.56003G=
NG_008139.2:g.56003G=
NG_008139.3:g.56228G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000347132.10:c.1661G= MANE Select ENSP00000262916.6:p.Arg554=
ENST00000347132.9:c.1661G= ENSP00000262916.6:p.Arg554=
ENST00000443478.3:c.1242G=
ENST00000506017.1:n.980G=
ENST00000509682.6:c.1499G= ENSP00000423756.2:p.Arg500=
NM_004700.3:c.1661G= NP_004691.2:p.Arg554=
NM_172163.2:c.1499G= NP_751895.1:p.Arg500=
XR_946798.1:n.1683G=
XR_946799.1:n.1683G=
XR_946800.1:n.1416G=
XM_017002792.1:c.644G= XP_016858281.1:p.Arg215=
NM_004700.4:c.1661G= MANE Select NP_004691.2:p.Arg554=
NM_172163.3:c.1499G= NP_751895.1:p.Arg500=