Canonical Allele Identifier: CA1164550125
Gene: KCNQ4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.40831062C= , CM000663.2:g.40831062C= GRCh38
NC_000001.10:g.41296734C= , CM000663.1:g.41296734C= GRCh37
NC_000001.9:g.41069321C= NCBI36
NG_008139.1:g.52051C=
NG_008139.2:g.52051C=
NG_008139.3:g.52276C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000347132.10:c.1293-22C= MANE Select ENSP00000262916.6:n.1293-22C=
ENST00000347132.9:c.1293-22C= ENSP00000262916.6:n.1293-22C=
ENST00000443478.3:c.874-22C=
ENST00000506017.1:n.612-22C=
ENST00000509682.6:c.1131-22C= ENSP00000423756.2:n.1131-22C=
NM_004700.3:c.1293-22C= NP_004691.2:n.1293-22C=
NM_172163.2:c.1131-22C= NP_751895.1:n.1131-22C=
XM_011542418.1:c.*215C= XP_011540720.1:n.*215C=
XR_946798.1:n.1299-22C=
XR_946799.1:n.1299-22C=
XR_946800.1:n.1048-22C=
XM_017002792.1:c.276-22C= XP_016858281.1:n.276-22C=
NM_004700.4:c.1293-22C= MANE Select NP_004691.2:n.1293-22C=
NM_172163.3:c.1131-22C= NP_751895.1:n.1131-22C=