ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00108447 (SAS)
Genomes Max Group AF
0.0004064 (SAS)
Exomes Max Group AF
0.00109265 (SAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.34761640G>A , CM000663.2:g.34761640G>A | GRCh38 |
| NC_000001.10:g.35227241G>A , CM000663.1:g.35227241G>A | GRCh37 |
| NC_000001.9:g.34999828G>A | NCBI36 |
| NG_016243.1:g.6900G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000339480.3:c.386G>A (GJB4) MANE Select | ENSP00000345868.1:p.Trp129Ter | |
| ENST00000339480.1:c.386G>A (GJB4) | ENSP00000345868.1:p.Trp129Ter | |
| ENST00000426886.1:c.208-43231C>T (SMIM12) | ENSP00000429902.1:n.208-43231C>T | |
| NM_153212.2:c.386G>A (GJB4) | NP_694944.1:p.Trp129Ter | |
| XM_011540679.1:c.386G>A (GJB4) | XP_011538981.1:p.Trp129Ter | |
| XR_947179.1:n.1002-18191C>T | ||
| XM_011540679.2:c.386G>A (GJB4) | XP_011538981.1:p.Trp129Ter | |
| XR_001737967.1:n.1023+36731C>T | ||
| NM_153212.3:c.386G>A (GJB4) MANE Select | NP_694944.1:p.Trp129Ter |