Canonical Allele Identifier: CA1164549933

Gene: KCNQ4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40830772_40830774delinsGTC , CM000663.2:g.40830772_40830774delinsGTC	GRCh38
NC_000001.10:g.41296444_41296446delinsGTC , CM000663.1:g.41296444_41296446delinsGTC	GRCh37
NC_000001.9:g.41069031_41069033delinsGTC	NCBI36
NG_008139.1:g.51761_51763delinsGTC
NG_008139.2:g.51761_51763delinsGTC
NG_008139.3:g.51986_51988delinsGTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347132.10:c.1293-312_1293-310delinsGTC MANE Select	ENSP00000262916.6:n.1293-312_1293-310delinsGTC
ENST00000347132.9:c.1293-312_1293-310delinsGTC	ENSP00000262916.6:n.1293-312_1293-310delinsGTC
ENST00000443478.3:c.874-312_874-310delinsGTC
ENST00000506017.1:n.612-312_612-310delinsGTC
ENST00000509682.6:c.1131-312_1131-310delinsGTC	ENSP00000423756.2:n.1131-312_1131-310delinsGTC
NM_004700.3:c.1293-312_1293-310delinsGTC	NP_004691.2:n.1293-312_1293-310delinsGTC
NM_172163.2:c.1131-312_1131-310delinsGTC	NP_751895.1:n.1131-312_1131-310delinsGTC
XM_011542418.1:c.1290_1292delinsGTC	XP_011540720.1:p.Val430=
XR_946798.1:n.1299-312_1299-310delinsGTC
XR_946799.1:n.1299-312_1299-310delinsGTC
XR_946800.1:n.1048-312_1048-310delinsGTC
XM_017002792.1:c.276-312_276-310delinsGTC	XP_016858281.1:n.276-312_276-310delinsGTC
NM_004700.4:c.1293-312_1293-310delinsGTC MANE Select	NP_004691.2:n.1293-312_1293-310delinsGTC
NM_172163.3:c.1131-312_1131-310delinsGTC	NP_751895.1:n.1131-312_1131-310delinsGTC