ClinVar RCV:
ClinVar Variation:
COSMIC:
COSM5825414
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.0129599 (AFR)
Genomes Max Group AF
0.01270569 (AFR)
Exomes Max Group AF
0.01264513 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.34761557C>G , CM000663.2:g.34761557C>G | GRCh38 |
| NC_000001.10:g.35227158C>G , CM000663.1:g.35227158C>G | GRCh37 |
| NC_000001.9:g.34999745C>G | NCBI36 |
| NG_016243.1:g.6817C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000339480.3:c.303C>G (GJB4) MANE Select | ENSP00000345868.1:p.Arg101= | |
| ENST00000339480.1:c.303C>G (GJB4) | ENSP00000345868.1:p.Arg101= | |
| ENST00000426886.1:c.208-43148G>C (SMIM12) | ENSP00000429902.1:n.208-43148G>C | |
| NM_153212.2:c.303C>G (GJB4) | NP_694944.1:p.Arg101= | |
| XM_011540679.1:c.303C>G (GJB4) | XP_011538981.1:p.Arg101= | |
| XR_947179.1:n.1002-18108G>C | ||
| XM_011540679.2:c.303C>G (GJB4) | XP_011538981.1:p.Arg101= | |
| XR_001737967.1:n.1023+36814G>C | ||
| NM_153212.3:c.303C>G (GJB4) MANE Select | NP_694944.1:p.Arg101= |