Linked Data
dbSNP Id:
rs189666922
ExAC:
1:35260061 C / T
gnomAD v2:
1-35260061-C-T
gnomAD v3:
1-34794460-C-T
gnomAD v4:
1-34794460-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.34794460C>T , CM000663.2:g.34794460C>T | GRCh38 |
| NC_000001.10:g.35260061C>T , CM000663.1:g.35260061C>T | GRCh37 |
| NC_000001.9:g.35032648C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342280.5:c.247C>T (GJA4) MANE Select | ENSP00000343676.4:p.Leu83Phe | |
| ENST00000342280.4:c.247C>T (GJA4) | ENSP00000343676.4:p.Leu83Phe | |
| ENST00000426886.1:c.207+61311G>A (SMIM12) | ENSP00000429902.1:n.207+61311G>A | |
| ENST00000450137.1:c.247C>T (GJA4) | ENSP00000409186.1:p.Leu83Phe | |
| NM_002060.2:c.247C>T (GJA4) | NP_002051.2:p.Leu83Phe | |
| XM_005270750.1:c.247C>T (GJA4) | XP_005270807.1:p.Leu83Phe | |
| XR_947179.1:n.1001+3911G>A | ||
| XM_005270750.2:c.247C>T (GJA4) | XP_005270807.1:p.Leu83Phe | |
| XM_017001043.2:c.247C>T (GJA4) | XP_016856532.1:p.Leu83Phe | |
| XR_001737967.1:n.1023+3911G>A | ||
| NM_002060.3:c.247C>T (GJA4) MANE Select | NP_002051.2:p.Leu83Phe |