Canonical Allele Identifier: CA794466
Gene: KCNQ4 HGNC NCBI
gnomAD v2:
1:41250004 A / ACCG
gnomAD v3:
1:40784332 A / ACCG
gnomAD v4:
chr1-40784332-A-ACCG
Joint Max Group AF 0.00006248 (AFR)
Genomes Max Group AF 0.0000791 (AFR)
Exomes Max Group AF 0.00000992 (AFR)
ClinVar RCV:
RCV001948826
RCV003446956
ClinVar Variation:
1437818
dbSNP:
769859021
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.40784338_40784340dup , CM000663.2:g.40784338_40784340dup GRCh38
NC_000001.10:g.41250010_41250012dup , CM000663.1:g.41250010_41250012dup GRCh37
NC_000001.9:g.41022597_41022599dup NCBI36
NG_008139.1:g.5327_5329dup
NG_008139.2:g.5327_5329dup
NG_008139.3:g.5552_5554dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000347132.10:c.245_247dup MANE Select ENSP00000262916.6:p.Arg82_Leu83insArg
ENST00000347132.9:c.245_247dup ENSP00000262916.6:p.Arg82_Leu83insArg
ENST00000509682.6:c.245_247dup ENSP00000423756.2:p.Arg82_Leu83insArg
NM_004700.3:c.245_247dup NP_004691.2:p.Arg82_Leu83insArg
NM_172163.2:c.245_247dup NP_751895.1:p.Arg82_Leu83insArg
XM_011542417.1:c.245_247dup XP_011540719.1:p.Arg82_Leu83insArg
XM_011542418.1:c.245_247dup XP_011540720.1:p.Arg82_Leu83insArg
XM_011542419.1:c.245_247dup XP_011540721.1:p.Arg82_Leu83insArg
XM_011542420.1:c.245_247dup XP_011540722.1:p.Arg82_Leu83insArg
XR_946798.1:n.251_253dup
XR_946799.1:n.251_253dup
XR_946800.1:n.251_253dup
NM_004700.4:c.245_247dup MANE Select NP_004691.2:p.Arg82_Leu83insArg
NM_172163.3:c.245_247dup NP_751895.1:p.Arg82_Leu83insArg
Search 100 bp 5'
Search 100 bp 3'