Canonical Allele Identifier: CA2645138916

Gene: KCNQ4

Linked Data

• gnomAD v4: 1-40834871-GGTGCTGGACAAGGGGATAGCAAAGAGATGGAGAGGGTGCTGGGAAAGAATC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40834872_40834922del , CM000663.2:g.40834872_40834922del	GRCh38
NC_000001.10:g.41300544_41300594del , CM000663.1:g.41300544_41300594del	GRCh37
NC_000001.9:g.41073131_41073181del	NCBI36
NG_008139.1:g.55861_55911del
NG_008139.2:g.55861_55911del
NG_008139.3:g.56086_56136del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347132.10:c.1614-95_1614-45del MANE Select	ENSP00000262916.6:n.1614-95_1614-45del
ENST00000347132.9:c.1614-95_1614-45del	ENSP00000262916.6:n.1614-95_1614-45del
ENST00000443478.3:c.1195-95_1195-45del
ENST00000506017.1:n.933-95_933-45del
ENST00000509682.6:c.1452-95_1452-45del	ENSP00000423756.2:n.1452-95_1452-45del
NM_004700.3:c.1614-95_1614-45del	NP_004691.2:n.1614-95_1614-45del
NM_172163.2:c.1452-95_1452-45del	NP_751895.1:n.1452-95_1452-45del
XR_946798.1:n.1620-79_1620-29del
XR_946799.1:n.1620-79_1620-29del
XR_946800.1:n.1369-95_1369-45del
XM_017002792.1:c.597-95_597-45del	XP_016858281.1:n.597-95_597-45del
NM_004700.4:c.1614-95_1614-45del MANE Select	NP_004691.2:n.1614-95_1614-45del
NM_172163.3:c.1452-95_1452-45del	NP_751895.1:n.1452-95_1452-45del