Canonical Allele Identifier: CA1142706472
Gene: KCNQ4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.40830763C= , CM000663.2:g.40830763C= GRCh38
NC_000001.10:g.41296435C= , CM000663.1:g.41296435C= GRCh37
NC_000001.9:g.41069022C= NCBI36
NG_008139.1:g.51752C=
NG_008139.2:g.51752C=
NG_008139.3:g.51977C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000347132.10:c.1293-321C= MANE Select ENSP00000262916.6:n.1293-321C=
ENST00000347132.9:c.1293-321C= ENSP00000262916.6:n.1293-321C=
ENST00000443478.3:c.874-321C=
ENST00000506017.1:n.612-321C=
ENST00000509682.6:c.1131-321C= ENSP00000423756.2:n.1131-321C=
NM_004700.3:c.1293-321C= NP_004691.2:n.1293-321C=
NM_172163.2:c.1131-321C= NP_751895.1:n.1131-321C=
XM_011542418.1:c.1281C= XP_011540720.1:p.Leu427=
XR_946798.1:n.1299-321C=
XR_946799.1:n.1299-321C=
XR_946800.1:n.1048-321C=
XM_017002792.1:c.276-321C= XP_016858281.1:n.276-321C=
NM_004700.4:c.1293-321C= MANE Select NP_004691.2:n.1293-321C=
NM_172163.3:c.1131-321C= NP_751895.1:n.1131-321C=