Linked Data
ClinVar Variation Id:
377626
ClinVar RCV Id:
RCV000427370
dbSNP Id:
rs374841789
ExAC:
3:8775516 C / T
gnomAD v2:
3-8775516-C-T
gnomAD v3:
3-8733830-C-T
gnomAD v4:
3-8733830-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.8733830C>T , CM000665.2:g.8733830C>T | GRCh38 |
| NC_000003.11:g.8775516C>T , CM000665.1:g.8775516C>T | GRCh37 |
| NC_000003.10:g.8750516C>T | NCBI36 |
| NG_008797.2:g.5021C>T , LRG_329:g.5021C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000343849.3:c.-47C>T (CAV3) MANE Select | ENSP00000341940.2:n.-47C>T | |
| ENST00000343849.2:c.-47C>T (CAV3) | ENSP00000341940.2:n.-47C>T | |
| ENST00000435138.5:c.64+8629G>A (SSUH2) | ENSP00000412333.1:n.64+8629G>A | |
| ENST00000478513.1:n.335+8629G>A (SSUH2) | ||
| NM_001234.4:c.-47C>T (CAV3) | NP_001225.1:n.-47C>T | |
| NM_033337.2:c.-47C>T , LRG_329t1:c.-47C>T (CAV3) | NP_203123.1:n.-47C>T | |
| XR_940435.1:n.330+8629G>A (SSUH2) | ||
| XM_017006530.1:c.-283+8629G>A (SSUH2) | XP_016862019.1:n.-283+8629G>A | |
| NM_001234.5:c.-47C>T (CAV3) | NP_001225.1:n.-47C>T | |
| NM_033337.3:c.-47C>T (CAV3) MANE Select | NP_203123.1:n.-47C>T |