Canonical Allele Identifier: CA1164551655
Gene: KCNQ4 HGNC NCBI

Linked Data

dbSNP Id: rs746145430
gnomAD v4: 1-40834922-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.40834922C>G , CM000663.2:g.40834922C>G GRCh38
NC_000001.10:g.41300594C>G , CM000663.1:g.41300594C>G GRCh37
NC_000001.9:g.41073181C>G NCBI36
NG_008139.1:g.55911C>G
NG_008139.2:g.55911C>G
NG_008139.3:g.56136C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000347132.10:c.1614-45C>G MANE Select ENSP00000262916.6:n.1614-45C>G
ENST00000347132.9:c.1614-45C>G ENSP00000262916.6:n.1614-45C>G
ENST00000443478.3:c.1195-45C>G
ENST00000506017.1:n.933-45C>G
ENST00000509682.6:c.1452-45C>G ENSP00000423756.2:n.1452-45C>G
NM_004700.3:c.1614-45C>G NP_004691.2:n.1614-45C>G
NM_172163.2:c.1452-45C>G NP_751895.1:n.1452-45C>G
XR_946798.1:n.1620-29C>G
XR_946799.1:n.1620-29C>G
XR_946800.1:n.1369-45C>G
XM_017002792.1:c.597-45C>G XP_016858281.1:n.597-45C>G
NM_004700.4:c.1614-45C>G MANE Select NP_004691.2:n.1614-45C>G
NM_172163.3:c.1452-45C>G NP_751895.1:n.1452-45C>G