Canonical Allele Identifier: CA2645138931

Gene: KCNQ4

Linked Data

• gnomAD v4: 1-40834907-GTGCTGGGAAAGAATCCC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40834912_40834928del , CM000663.2:g.40834912_40834928del	GRCh38
NC_000001.10:g.41300584_41300600del , CM000663.1:g.41300584_41300600del	GRCh37
NC_000001.9:g.41073171_41073187del	NCBI36
NG_008139.1:g.55901_55917del
NG_008139.2:g.55901_55917del
NG_008139.3:g.56126_56142del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347132.10:c.1614-55_1614-39del MANE Select	ENSP00000262916.6:n.1614-55_1614-39del
ENST00000347132.9:c.1614-55_1614-39del	ENSP00000262916.6:n.1614-55_1614-39del
ENST00000443478.3:c.1195-55_1195-39del
ENST00000506017.1:n.933-55_933-39del
ENST00000509682.6:c.1452-55_1452-39del	ENSP00000423756.2:n.1452-55_1452-39del
NM_004700.3:c.1614-55_1614-39del	NP_004691.2:n.1614-55_1614-39del
NM_172163.2:c.1452-55_1452-39del	NP_751895.1:n.1452-55_1452-39del
XR_946798.1:n.1620-39_1620-23del
XR_946799.1:n.1620-39_1620-23del
XR_946800.1:n.1369-55_1369-39del
XM_017002792.1:c.597-55_597-39del	XP_016858281.1:n.597-55_597-39del
NM_004700.4:c.1614-55_1614-39del MANE Select	NP_004691.2:n.1614-55_1614-39del
NM_172163.3:c.1452-55_1452-39del	NP_751895.1:n.1452-55_1452-39del