Canonical Allele Identifier: CA340532
Gene: KCNQ4 HGNC NCBI

Linked Data

ClinVar Variation Id: 6241
dbSNP Id: rs28937588
gnomAD v4: 1-40819893-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.40819893G>A , CM000663.2:g.40819893G>A GRCh38
NC_000001.10:g.41285565G>A , CM000663.1:g.41285565G>A GRCh37
NC_000001.9:g.41058152G>A NCBI36
NG_008139.1:g.40882G>A
NG_008139.2:g.40882G>A
NG_008139.3:g.41107G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000347132.10:c.853G>A MANE Select ENSP00000262916.6:p.Gly285Ser
ENST00000347132.9:c.853G>A ENSP00000262916.6:p.Gly285Ser
ENST00000443478.3:c.539G>A
ENST00000506017.1:n.172G>A
ENST00000509682.6:c.853G>A ENSP00000423756.2:p.Gly285Ser
NM_004700.3:c.853G>A NP_004691.2:p.Gly285Ser
NM_172163.2:c.853G>A NP_751895.1:p.Gly285Ser
XM_011542417.1:c.853G>A XP_011540719.1:p.Gly285Ser
XM_011542418.1:c.853G>A XP_011540720.1:p.Gly285Ser
XM_011542419.1:c.853G>A XP_011540721.1:p.Gly285Ser
XM_011542420.1:c.853G>A XP_011540722.1:p.Gly285Ser
XR_946798.1:n.859G>A
XR_946799.1:n.859G>A
XR_946800.1:n.859G>A
XM_017002792.1:c.-165G>A XP_016858281.1:n.-165G>A
NM_004700.4:c.853G>A MANE Select NP_004691.2:p.Gly285Ser
NM_172163.3:c.853G>A NP_751895.1:p.Gly285Ser