Linked Data
ClinVar Variation Id:
261401
dbSNP Id:
rs17429833
ExAC:
3:190040008 C / G
gnomAD v2:
3-190040008-C-G
gnomAD v3:
3-190322219-C-G
gnomAD v4:
3-190322219-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.190322219C>G , CM000665.2:g.190322219C>G | GRCh38 |
| NC_000003.11:g.190040008C>G , CM000665.1:g.190040008C>G | GRCh37 |
| NC_000003.10:g.191522702C>G | NCBI36 |
| NG_021418.1:g.5228G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000295522.4:c.-13G>C (CLDN1) MANE Select | ENSP00000295522.3:n.-13G>C | |
| ENST00000295522.3:c.-13G>C (CLDN1) | ENSP00000295522.3:n.-13G>C | |
| NM_021101.4:c.-13G>C (CLDN1) | NP_066924.1:n.-13G>C | |
| NM_021101.5:c.-13G>C (CLDN1) MANE Select | NP_066924.1:n.-13G>C | |
| NM_001378492.1:c.-279+7160C>G (CLDN16) | NP_001365421.1:n.-279+7160C>G | |
| NM_001378493.1:c.-279+31628C>G (CLDN16) | NP_001365422.1:n.-279+31628C>G |