Canonical Allele Identifier: CA347351
Gene: KCNQ4 HGNC NCBI

Linked Data

ClinVar Variation Id: 208367
ClinVar RCV Id: RCV000655878
dbSNP Id: rs797044967
MyVariant Identifiers: chr1:g.41285118T>C (hg19) chr1:g.40819446T>C (hg38)
PubMed: PMID:20301388 PMID:22420747
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.40819446T>C , CM000663.2:g.40819446T>C GRCh38
NC_000001.10:g.41285118T>C , CM000663.1:g.41285118T>C GRCh37
NC_000001.9:g.41057705T>C NCBI36
NG_008139.1:g.40435T>C
NG_008139.2:g.40435T>C
NG_008139.3:g.40660T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000347132.10:c.808T>C MANE Select ENSP00000262916.6:p.Tyr270His
ENST00000347132.9:c.808T>C ENSP00000262916.6:p.Tyr270His
ENST00000443478.3:c.494T>C
ENST00000506017.1:n.127T>C
ENST00000509682.6:c.808T>C ENSP00000423756.2:p.Tyr270His
NM_004700.3:c.808T>C NP_004691.2:p.Tyr270His
NM_172163.2:c.808T>C NP_751895.1:p.Tyr270His
XM_011542417.1:c.808T>C XP_011540719.1:p.Tyr270His
XM_011542418.1:c.808T>C XP_011540720.1:p.Tyr270His
XM_011542419.1:c.808T>C XP_011540721.1:p.Tyr270His
XM_011542420.1:c.808T>C XP_011540722.1:p.Tyr270His
XR_946798.1:n.814T>C
XR_946799.1:n.814T>C
XR_946800.1:n.814T>C
XM_017002792.1:c.-210T>C XP_016858281.1:n.-210T>C
NM_004700.4:c.808T>C MANE Select NP_004691.2:p.Tyr270His
NM_172163.3:c.808T>C NP_751895.1:p.Tyr270His
Search 100 bp 5'
Search 100 bp 3'