Canonical Allele Identifier: CA340539
Gene: KCNQ4 HGNC NCBI

Linked Data

ClinVar Variation Id: 6248
ClinVar RCV Id: RCV000006626
dbSNP Id: rs80358272
MyVariant Identifiers: chr1:g.41249976del (hg19) chr1:g.40784304del (hg38)
PubMed: PMID:16596322 PMID:20301388
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.40784304del , CM000663.2:g.40784304del GRCh38
NC_000001.10:g.41249976del , CM000663.1:g.41249976del GRCh37
NC_000001.9:g.41022563del NCBI36
NG_008139.1:g.5293del
NG_008139.2:g.5293del
NG_008139.3:g.5518del

Transcript Alleles

HGVS Amino-acid Change
ENST00000347132.10:c.211del MANE Select ENSP00000262916.6:p.Gln71SerfsTer?
ENST00000347132.9:c.211del ENSP00000262916.6:p.Gln71SerfsTer?
ENST00000509682.6:c.211del ENSP00000423756.2:p.Gln71SerfsTer?
NM_004700.3:c.211del NP_004691.2:p.Gln71SerfsTer?
NM_172163.2:c.211del NP_751895.1:p.Gln71SerfsTer?
XM_011542417.1:c.211del XP_011540719.1:p.Gln71SerfsTer?
XM_011542418.1:c.211del XP_011540720.1:p.Gln71SerfsTer?
XM_011542419.1:c.211del XP_011540721.1:p.Gln71SerfsTer?
XM_011542420.1:c.211del XP_011540722.1:p.Gln71SerfsTer?
XR_946798.1:n.217del
XR_946799.1:n.217del
XR_946800.1:n.217del
NM_004700.4:c.211del MANE Select NP_004691.2:p.Gln71SerfsTer?
NM_172163.3:c.211del NP_751895.1:p.Gln71SerfsTer?
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