Linked Data
ClinVar Variation Id:
446459
ClinVar RCV Id:
RCV000515700
dbSNP Id:
rs1554352234
gnomAD v3:
7-107661723-A-G
gnomAD v4:
7-107661723-A-G
PubMed:
PMID:24105851
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.107661723A>G , CM000669.2:g.107661723A>G | GRCh38 |
| NC_000007.13:g.107302168A>G , CM000669.1:g.107302168A>G | GRCh37 |
| NC_000007.12:g.107089404A>G | NCBI36 |
| NG_008489.1:g.6089A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000644269.2:c.82A>G (SLC26A4) MANE Select | ENSP00000494017.1:p.Ser28Gly | |
| ENST00000265715.7:c.82A>G (SLC26A4) | ENSP00000265715.3:p.Ser28Gly | |
| ENST00000440056.1:c.82A>G (SLC26A4) | ENSP00000394760.1:p.Ser28Gly | |
| NM_000441.1:c.82A>G (SLC26A4) | NP_000432.1:p.Ser28Gly | |
| NR_028137.1:n.76T>C (SLC26A4-AS1) | ||
| XM_005250425.1:c.82A>G (SLC26A4) | XP_005250482.1:p.Ser28Gly | |
| XM_006716025.2:c.82A>G (SLC26A4) | XP_006716088.1:p.Ser28Gly | |
| XM_005250425.2:c.82A>G (SLC26A4) | XP_005250482.1:p.Ser28Gly | |
| XM_006716025.3:c.82A>G (SLC26A4) | XP_006716088.1:p.Ser28Gly | |
| XM_017012318.1:c.82A>G (SLC26A4) | XP_016867807.1:p.Ser28Gly | |
| NM_000441.2:c.82A>G (SLC26A4) MANE Select | NP_000432.1:p.Ser28Gly |