Canonical Allele Identifier: CA347397
Gene: KCNQ4 HGNC NCBI

Linked Data

ClinVar Variation Id: 208371
ClinVar RCV Id: RCV000655882 RCV001762405
dbSNP Id: rs797044971
gnomAD v4: 1-40819931-G-T
MyVariant Identifiers: chr1:g.41285603G>T (hg19) chr1:g.40819931G>T (hg38)
PubMed: PMID:20301388 PMID:23717403
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.40819931G>T , CM000663.2:g.40819931G>T GRCh38
NC_000001.10:g.41285603G>T , CM000663.1:g.41285603G>T GRCh37
NC_000001.9:g.41058190G>T NCBI36
NG_008139.1:g.40920G>T
NG_008139.2:g.40920G>T
NG_008139.3:g.41145G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000347132.10:c.891G>T MANE Select ENSP00000262916.6:p.Arg297Ser
ENST00000347132.9:c.891G>T ENSP00000262916.6:p.Arg297Ser
ENST00000443478.3:c.577G>T
ENST00000506017.1:n.210G>T
ENST00000509682.6:c.891G>T ENSP00000423756.2:p.Arg297Ser
NM_004700.3:c.891G>T NP_004691.2:p.Arg297Ser
NM_172163.2:c.891G>T NP_751895.1:p.Arg297Ser
XM_011542417.1:c.891G>T XP_011540719.1:p.Arg297Ser
XM_011542418.1:c.891G>T XP_011540720.1:p.Arg297Ser
XM_011542419.1:c.891G>T XP_011540721.1:p.Arg297Ser
XM_011542420.1:c.891G>T XP_011540722.1:p.Arg297Ser
XR_946798.1:n.897G>T
XR_946799.1:n.897G>T
XR_946800.1:n.897G>T
XM_017002792.1:c.-127G>T XP_016858281.1:n.-127G>T
NM_004700.4:c.891G>T MANE Select NP_004691.2:p.Arg297Ser
NM_172163.3:c.891G>T NP_751895.1:p.Arg297Ser
Search 100 bp 5'
Search 100 bp 3'