Canonical Allele Identifier: CA2574332656
Gene: KCNQ4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.40784245_40784258del , CM000663.2:g.40784245_40784258del GRCh38
NC_000001.10:g.41249917_41249930del , CM000663.1:g.41249917_41249930del GRCh37
NC_000001.9:g.41022504_41022517del NCBI36
NG_008139.1:g.5234_5247del
NG_008139.2:g.5234_5247del
NG_008139.3:g.5459_5472del

Transcript Alleles

HGVS Amino-acid Change
ENST00000347132.10:c.152_165del MANE Select ENSP00000262916.6:p.Pro51ArgfsTer?
ENST00000347132.9:c.152_165del ENSP00000262916.6:p.Pro51ArgfsTer?
ENST00000509682.6:c.152_165del ENSP00000423756.2:p.Pro51ArgfsTer?
NM_004700.3:c.152_165del NP_004691.2:p.Pro51ArgfsTer?
NM_172163.2:c.152_165del NP_751895.1:p.Pro51ArgfsTer?
XM_011542417.1:c.152_165del XP_011540719.1:p.Pro51ArgfsTer?
XM_011542418.1:c.152_165del XP_011540720.1:p.Pro51ArgfsTer?
XM_011542419.1:c.152_165del XP_011540721.1:p.Pro51ArgfsTer?
XM_011542420.1:c.152_165del XP_011540722.1:p.Pro51ArgfsTer?
XR_946798.1:n.158_171del
XR_946799.1:n.158_171del
XR_946800.1:n.158_171del
NM_004700.4:c.152_165del MANE Select NP_004691.2:p.Pro51ArgfsTer?
NM_172163.3:c.152_165del NP_751895.1:p.Pro51ArgfsTer?