Canonical Allele Identifier: CA735790425
Gene: KCNQ4 HGNC NCBI

Linked Data

dbSNP Id: rs1036042219
gnomAD v3: 1-40819291-C-G
gnomAD v4: 1-40819291-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.40819291C>G , CM000663.2:g.40819291C>G GRCh38
NC_000001.10:g.41284963C>G , CM000663.1:g.41284963C>G GRCh37
NC_000001.9:g.41057550C>G NCBI36
NG_008139.1:g.40280C>G
NG_008139.2:g.40280C>G
NG_008139.3:g.40505C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000347132.10:c.709-56C>G MANE Select ENSP00000262916.6:n.709-56C>G
ENST00000347132.9:c.709-56C>G ENSP00000262916.6:n.709-56C>G
ENST00000443478.3:c.395-56C>G
ENST00000506017.1:n.28-56C>G
ENST00000509682.6:c.709-56C>G ENSP00000423756.2:n.709-56C>G
NM_004700.3:c.709-56C>G NP_004691.2:n.709-56C>G
NM_172163.2:c.709-56C>G NP_751895.1:n.709-56C>G
XM_011542417.1:c.709-56C>G XP_011540719.1:n.709-56C>G
XM_011542418.1:c.709-56C>G XP_011540720.1:n.709-56C>G
XM_011542419.1:c.709-56C>G XP_011540721.1:n.709-56C>G
XM_011542420.1:c.709-56C>G XP_011540722.1:n.709-56C>G
XR_946798.1:n.715-56C>G
XR_946799.1:n.715-56C>G
XR_946800.1:n.715-56C>G
XM_017002792.1:c.-309-56C>G XP_016858281.1:n.-309-56C>G
NM_004700.4:c.709-56C>G MANE Select NP_004691.2:n.709-56C>G
NM_172163.3:c.709-56C>G NP_751895.1:n.709-56C>G