Linked Data
dbSNP Id:
rs745666312
ExAC:
1:35260041 G / A
gnomAD v2:
1-35260041-G-A
gnomAD v3:
1-34794440-G-A
gnomAD v4:
1-34794440-G-A
COSMIC:
COSM1342077
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.34794440G>A , CM000663.2:g.34794440G>A | GRCh38 |
| NC_000001.10:g.35260041G>A , CM000663.1:g.35260041G>A | GRCh37 |
| NC_000001.9:g.35032628G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342280.5:c.227G>A (GJA4) MANE Select | ENSP00000343676.4:p.Arg76His | |
| ENST00000342280.4:c.227G>A (GJA4) | ENSP00000343676.4:p.Arg76His | |
| ENST00000426886.1:c.207+61331C>T (SMIM12) | ENSP00000429902.1:n.207+61331C>T | |
| ENST00000450137.1:c.227G>A (GJA4) | ENSP00000409186.1:p.Arg76His | |
| NM_002060.2:c.227G>A (GJA4) | NP_002051.2:p.Arg76His | |
| XM_005270750.1:c.227G>A (GJA4) | XP_005270807.1:p.Arg76His | |
| XR_947179.1:n.1001+3931C>T | ||
| XM_005270750.2:c.227G>A (GJA4) | XP_005270807.1:p.Arg76His | |
| XM_017001043.2:c.227G>A (GJA4) | XP_016856532.1:p.Arg76His | |
| XR_001737967.1:n.1023+3931C>T | ||
| NM_002060.3:c.227G>A (GJA4) MANE Select | NP_002051.2:p.Arg76His |