Canonical Allele Identifier: CA347354
Gene: KCNQ4 HGNC NCBI

Linked Data

ClinVar Variation Id: 208370
ClinVar RCV Id: RCV000655881 RCV002510811
dbSNP Id: rs797044970
MyVariant Identifiers: chr1:g.41285584C>T (hg19) chr1:g.40819912C>T (hg38)
PubMed: PMID:20301388 PMID:23717403
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.40819912C>T , CM000663.2:g.40819912C>T GRCh38
NC_000001.10:g.41285584C>T , CM000663.1:g.41285584C>T GRCh37
NC_000001.9:g.41058171C>T NCBI36
NG_008139.1:g.40901C>T
NG_008139.2:g.40901C>T
NG_008139.3:g.41126C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000347132.10:c.872C>T MANE Select ENSP00000262916.6:p.Pro291Leu
ENST00000347132.9:c.872C>T ENSP00000262916.6:p.Pro291Leu
ENST00000443478.3:c.558C>T
ENST00000506017.1:n.191C>T
ENST00000509682.6:c.872C>T ENSP00000423756.2:p.Pro291Leu
NM_004700.3:c.872C>T NP_004691.2:p.Pro291Leu
NM_172163.2:c.872C>T NP_751895.1:p.Pro291Leu
XM_011542417.1:c.872C>T XP_011540719.1:p.Pro291Leu
XM_011542418.1:c.872C>T XP_011540720.1:p.Pro291Leu
XM_011542419.1:c.872C>T XP_011540721.1:p.Pro291Leu
XM_011542420.1:c.872C>T XP_011540722.1:p.Pro291Leu
XR_946798.1:n.878C>T
XR_946799.1:n.878C>T
XR_946800.1:n.878C>T
XM_017002792.1:c.-146C>T XP_016858281.1:n.-146C>T
NM_004700.4:c.872C>T MANE Select NP_004691.2:p.Pro291Leu
NM_172163.3:c.872C>T NP_751895.1:p.Pro291Leu
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