Linked Data
dbSNP Id:
rs776319428
ExAC:
3:190039975 C / G
gnomAD v2:
3-190039975-C-G
gnomAD v3:
3-190322186-C-G
gnomAD v4:
3-190322186-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.190322186C>G , CM000665.2:g.190322186C>G | GRCh38 |
| NC_000003.11:g.190039975C>G , CM000665.1:g.190039975C>G | GRCh37 |
| NC_000003.10:g.191522669C>G | NCBI36 |
| NG_021418.1:g.5261G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000295522.4:c.21G>C (CLDN1) MANE Select | ENSP00000295522.3:p.Gln7His | |
| ENST00000295522.3:c.21G>C (CLDN1) | ENSP00000295522.3:p.Gln7His | |
| NM_021101.4:c.21G>C (CLDN1) | NP_066924.1:p.Gln7His | |
| NM_021101.5:c.21G>C (CLDN1) MANE Select | NP_066924.1:p.Gln7His | |
| NM_001378492.1:c.-279+7127C>G (CLDN16) | NP_001365421.1:n.-279+7127C>G | |
| NM_001378493.1:c.-279+31595C>G (CLDN16) | NP_001365422.1:n.-279+31595C>G |