Linked Data
ClinVar Variation Id:
2979667
ClinVar RCV Id:
RCV003834777
dbSNP Id:
rs773583740
ExAC:
1:35227105 G / T
gnomAD v2:
1-35227105-G-T
gnomAD v4:
1-34761504-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.34761504G>T , CM000663.2:g.34761504G>T | GRCh38 |
| NC_000001.10:g.35227105G>T , CM000663.1:g.35227105G>T | GRCh37 |
| NC_000001.9:g.34999692G>T | NCBI36 |
| NG_016243.1:g.6764G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000339480.3:c.250G>T (GJB4) MANE Select | ENSP00000345868.1:p.Val84Phe | |
| ENST00000339480.1:c.250G>T (GJB4) | ENSP00000345868.1:p.Val84Phe | |
| ENST00000426886.1:c.208-43095C>A (SMIM12) | ENSP00000429902.1:n.208-43095C>A | |
| NM_153212.2:c.250G>T (GJB4) | NP_694944.1:p.Val84Phe | |
| XM_011540679.1:c.250G>T (GJB4) | XP_011538981.1:p.Val84Phe | |
| XR_947179.1:n.1002-18055C>A | ||
| XM_011540679.2:c.250G>T (GJB4) | XP_011538981.1:p.Val84Phe | |
| XR_001737967.1:n.1023+36867C>A | ||
| NM_153212.3:c.250G>T (GJB4) MANE Select | NP_694944.1:p.Val84Phe |