Linked Data
ClinVar Variation Id:
2003737
ClinVar RCV Id:
RCV002811404
gnomAD v4:
7-107661782-G-A
MyVariant Identifiers:
chr7:g.107302227G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.107661782G>A , CM000669.2:g.107661782G>A | GRCh38 |
| NC_000007.13:g.107302227G>A , CM000669.1:g.107302227G>A | GRCh37 |
| NC_000007.12:g.107089463G>A | NCBI36 |
| NG_008489.1:g.6148G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000644269.2:c.141G>A (SLC26A4) MANE Select | ENSP00000494017.1:p.Arg47= | |
| ENST00000265715.7:c.141G>A (SLC26A4) | ENSP00000265715.3:p.Arg47= | |
| ENST00000440056.1:c.141G>A (SLC26A4) | ENSP00000394760.1:p.Arg47= | |
| NM_000441.1:c.141G>A (SLC26A4) | NP_000432.1:p.Arg47= | |
| NR_028137.1:n.17C>T (SLC26A4-AS1) | ||
| XM_005250425.1:c.141G>A (SLC26A4) | XP_005250482.1:p.Arg47= | |
| XM_006716025.2:c.141G>A (SLC26A4) | XP_006716088.1:p.Arg47= | |
| XM_005250425.2:c.141G>A (SLC26A4) | XP_005250482.1:p.Arg47= | |
| XM_006716025.3:c.141G>A (SLC26A4) | XP_006716088.1:p.Arg47= | |
| XM_017012318.1:c.141G>A (SLC26A4) | XP_016867807.1:p.Arg47= | |
| NM_000441.2:c.141G>A (SLC26A4) MANE Select | NP_000432.1:p.Arg47= |