Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.34761456T>C , CM000663.2:g.34761456T>C | GRCh38 |
| NC_000001.10:g.35227057T>C , CM000663.1:g.35227057T>C | GRCh37 |
| NC_000001.9:g.34999644T>C | NCBI36 |
| NG_016243.1:g.6716T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000339480.3:c.202T>C (GJB4) MANE Select | ENSP00000345868.1:p.Phe68Leu | |
| ENST00000339480.1:c.202T>C (GJB4) | ENSP00000345868.1:p.Phe68Leu | |
| ENST00000426886.1:c.208-43047A>G (SMIM12) | ENSP00000429902.1:n.208-43047A>G | |
| NM_153212.2:c.202T>C (GJB4) | NP_694944.1:p.Phe68Leu | |
| XM_011540679.1:c.202T>C (GJB4) | XP_011538981.1:p.Phe68Leu | |
| XR_947179.1:n.1002-18007A>G | ||
| XM_011540679.2:c.202T>C (GJB4) | XP_011538981.1:p.Phe68Leu | |
| XR_001737967.1:n.1023+36915A>G | ||
| NM_153212.3:c.202T>C (GJB4) MANE Select | NP_694944.1:p.Phe68Leu |