Canonical Allele Identifier: CA340533

Gene: KCNQ4

Linked Data

• ClinVar Variation Id: 6242
• ClinVar RCV Id: RCV000006620 ; RCV000211784
• dbSNP Id: rs80358277
• gnomAD v3: 1-40819465-G-C
• gnomAD v4: 1-40819465-G-C
• MyVariant Identifiers: chr1:g.41285137G>C (hg19) ; chr1:g.40819465G>C (hg38)
• PubMed: PMID:8035838 ; PMID:10369879 ; PMID:11450843 ; PMID:11915881 ; PMID:12112653 ; PMID:15699719 ; PMID:20301388 ; PMID:20832469 ; PMID:20966080 ; PMID:22384008 ; PMID:23750663

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40819465G>C , CM000663.2:g.40819465G>C	GRCh38
NC_000001.10:g.41285137G>C , CM000663.1:g.41285137G>C	GRCh37
NC_000001.9:g.41057724G>C	NCBI36
NG_008139.1:g.40454G>C
NG_008139.2:g.40454G>C
NG_008139.3:g.40679G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000347132.10:c.827G>C MANE Select	ENSP00000262916.6:p.Trp276Ser
ENST00000347132.9:c.827G>C	ENSP00000262916.6:p.Trp276Ser
ENST00000443478.3:c.513G>C
ENST00000506017.1:n.146G>C
ENST00000509682.6:c.827G>C	ENSP00000423756.2:p.Trp276Ser
NM_004700.3:c.827G>C	NP_004691.2:p.Trp276Ser
NM_172163.2:c.827G>C	NP_751895.1:p.Trp276Ser
XM_011542417.1:c.827G>C	XP_011540719.1:p.Trp276Ser
XM_011542418.1:c.827G>C	XP_011540720.1:p.Trp276Ser
XM_011542419.1:c.827G>C	XP_011540721.1:p.Trp276Ser
XM_011542420.1:c.827G>C	XP_011540722.1:p.Trp276Ser
XR_946798.1:n.833G>C
XR_946799.1:n.833G>C
XR_946800.1:n.833G>C
XM_017002792.1:c.-191G>C	XP_016858281.1:n.-191G>C
NM_004700.4:c.827G>C MANE Select	NP_004691.2:p.Trp276Ser
NM_172163.3:c.827G>C	NP_751895.1:p.Trp276Ser