gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.20838948 (AFR)
Genomes Max Group AF
0.20838948 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.190308865G>T , CM000665.2:g.190308865G>T | GRCh38 |
| NC_000003.11:g.190026654G>T , CM000665.1:g.190026654G>T | GRCh37 |
| NC_000003.10:g.191509348G>T | NCBI36 |
| NG_021418.1:g.18582C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000295522.4:c.474-426C>A (CLDN1) MANE Select | ENSP00000295522.3:n.474-426C>A | |
| ENST00000295522.3:c.474-426C>A (CLDN1) | ENSP00000295522.3:n.474-426C>A | |
| NM_021101.4:c.474-426C>A (CLDN1) | NP_066924.1:n.474-426C>A | |
| XR_001741069.1:n.203-6028G>T | ||
| NM_021101.5:c.474-426C>A (CLDN1) MANE Select | NP_066924.1:n.474-426C>A | |
| NM_001378492.1:c.-445-6028G>T (CLDN16) | NP_001365421.1:n.-445-6028G>T | |
| NM_001378493.1:c.-279+18274G>T (CLDN16) | NP_001365422.1:n.-279+18274G>T |