Canonical Allele Identifier: CA2645138942

Gene: KCNQ4

Linked Data

• dbSNP Id: rs2148332501
• gnomAD v4: 1-40834943-CCT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40834946_40834947del , CM000663.2:g.40834946_40834947del	GRCh38
NC_000001.10:g.41300618_41300619del , CM000663.1:g.41300618_41300619del	GRCh37
NC_000001.9:g.41073205_41073206del	NCBI36
NG_008139.1:g.55935_55936del
NG_008139.2:g.55935_55936del
NG_008139.3:g.56160_56161del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347132.10:c.1614-21_1614-20del MANE Select	ENSP00000262916.6:n.1614-21_1614-20del
ENST00000347132.9:c.1614-21_1614-20del	ENSP00000262916.6:n.1614-21_1614-20del
ENST00000443478.3:c.1195-21_1195-20del
ENST00000506017.1:n.933-21_933-20del
ENST00000509682.6:c.1452-21_1452-20del	ENSP00000423756.2:n.1452-21_1452-20del
NM_004700.3:c.1614-21_1614-20del	NP_004691.2:n.1614-21_1614-20del
NM_172163.2:c.1452-21_1452-20del	NP_751895.1:n.1452-21_1452-20del
XR_946798.1:n.1620-5_1620-4del
XR_946799.1:n.1620-5_1620-4del
XR_946800.1:n.1369-21_1369-20del
XM_017002792.1:c.597-21_597-20del	XP_016858281.1:n.597-21_597-20del
NM_004700.4:c.1614-21_1614-20del MANE Select	NP_004691.2:n.1614-21_1614-20del
NM_172163.3:c.1452-21_1452-20del	NP_751895.1:n.1452-21_1452-20del