ClinVar RCV:
ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00000183 (NFE)
Exomes Max Group AF
0.00000194 (NFE)
Revel Score:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.34761375G>A , CM000663.2:g.34761375G>A | GRCh38 |
| NC_000001.10:g.35226976G>A , CM000663.1:g.35226976G>A | GRCh37 |
| NC_000001.9:g.34999563G>A | NCBI36 |
| NG_016243.1:g.6635G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000339480.3:c.121G>A (GJB4) MANE Select | ENSP00000345868.1:p.Glu41Lys | |
| ENST00000339480.1:c.121G>A (GJB4) | ENSP00000345868.1:p.Glu41Lys | |
| ENST00000426886.1:c.208-42966C>T (SMIM12) | ENSP00000429902.1:n.208-42966C>T | |
| NM_153212.2:c.121G>A (GJB4) | NP_694944.1:p.Glu41Lys | |
| XM_011540679.1:c.121G>A (GJB4) | XP_011538981.1:p.Glu41Lys | |
| XR_947179.1:n.1002-17926C>T | ||
| XM_011540679.2:c.121G>A (GJB4) | XP_011538981.1:p.Glu41Lys | |
| XR_001737967.1:n.1023+36996C>T | ||
| NM_153212.3:c.121G>A (GJB4) MANE Select | NP_694944.1:p.Glu41Lys |