Linked Data
ClinVar Variation Id:
195367
dbSNP Id:
rs9869263
ExAC:
3:190030680 A / G
gnomAD v2:
3-190030680-A-G
gnomAD v3:
3-190312891-A-G
gnomAD v4:
3-190312891-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.190312891A>G , CM000665.2:g.190312891A>G | GRCh38 |
| NC_000003.11:g.190030680A>G , CM000665.1:g.190030680A>G | GRCh37 |
| NC_000003.10:g.191513374A>G | NCBI36 |
| NG_021418.1:g.14556T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000295522.4:c.369T>C (CLDN1) MANE Select | ENSP00000295522.3:p.Gly123= | |
| ENST00000295522.3:c.369T>C (CLDN1) | ENSP00000295522.3:p.Gly123= | |
| ENST00000490800.1:n.328T>C (CLDN1) | ||
| NM_021101.4:c.369T>C (CLDN1) | NP_066924.1:p.Gly123= | |
| XR_001741069.1:n.203-2002A>G | ||
| NM_021101.5:c.369T>C (CLDN1) MANE Select | NP_066924.1:p.Gly123= | |
| NM_001378492.1:c.-445-2002A>G (CLDN16) | NP_001365421.1:n.-445-2002A>G | |
| NM_001378493.1:c.-279+22300A>G (CLDN16) | NP_001365422.1:n.-279+22300A>G |