Linked Data
ClinVar Variation Id:
1382003
dbSNP Id:
rs763674205
ExAC:
3:190027967 A / G
gnomAD v2:
3-190027967-A-G
gnomAD v3:
3-190310178-A-G
gnomAD v4:
3-190310178-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.190310178A>G , CM000665.2:g.190310178A>G | GRCh38 |
| NC_000003.11:g.190027967A>G , CM000665.1:g.190027967A>G | GRCh37 |
| NC_000003.10:g.191510661A>G | NCBI36 |
| NG_021418.1:g.17269T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000295522.4:c.464T>C (CLDN1) MANE Select | ENSP00000295522.3:p.Val155Ala | |
| ENST00000295522.3:c.464T>C (CLDN1) | ENSP00000295522.3:p.Val155Ala | |
| ENST00000490800.1:n.423T>C (CLDN1) | ||
| NM_021101.4:c.464T>C (CLDN1) | NP_066924.1:p.Val155Ala | |
| XR_001741069.1:n.203-4715A>G | ||
| NM_021101.5:c.464T>C (CLDN1) MANE Select | NP_066924.1:p.Val155Ala | |
| NM_001378492.1:c.-445-4715A>G (CLDN16) | NP_001365421.1:n.-445-4715A>G | |
| NM_001378493.1:c.-279+19587A>G (CLDN16) | NP_001365422.1:n.-279+19587A>G |