Canonical Allele Identifier: CA16042364
Gene: KCNQ4 HGNC NCBI

Linked Data

ClinVar Variation Id: 372951
ClinVar RCV Id: RCV000412910
dbSNP Id: rs1057518095
MyVariant Identifiers: chr1:g.41285134G>C (hg19) chr1:g.40819462G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.40819462G>C , CM000663.2:g.40819462G>C GRCh38
NC_000001.10:g.41285134G>C , CM000663.1:g.41285134G>C GRCh37
NC_000001.9:g.41057721G>C NCBI36
NG_008139.1:g.40451G>C
NG_008139.2:g.40451G>C
NG_008139.3:g.40676G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000347132.10:c.824G>C MANE Select ENSP00000262916.6:p.Trp275Ser
ENST00000347132.9:c.824G>C ENSP00000262916.6:p.Trp275Ser
ENST00000443478.3:c.510G>C
ENST00000506017.1:n.143G>C
ENST00000509682.6:c.824G>C ENSP00000423756.2:p.Trp275Ser
NM_004700.3:c.824G>C NP_004691.2:p.Trp275Ser
NM_172163.2:c.824G>C NP_751895.1:p.Trp275Ser
XM_011542417.1:c.824G>C XP_011540719.1:p.Trp275Ser
XM_011542418.1:c.824G>C XP_011540720.1:p.Trp275Ser
XM_011542419.1:c.824G>C XP_011540721.1:p.Trp275Ser
XM_011542420.1:c.824G>C XP_011540722.1:p.Trp275Ser
XR_946798.1:n.830G>C
XR_946799.1:n.830G>C
XR_946800.1:n.830G>C
XM_017002792.1:c.-194G>C XP_016858281.1:n.-194G>C
NM_004700.4:c.824G>C MANE Select NP_004691.2:p.Trp275Ser
NM_172163.3:c.824G>C NP_751895.1:p.Trp275Ser
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