Linked Data
ClinVar Variation Id:
339904
ClinVar RCV Id:
RCV000326596
dbSNP Id:
rs117804848
gnomAD v2:
21-37852048-G-C
gnomAD v3:
21-36479750-G-C
gnomAD v4:
21-36479750-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.36479750G>C , CM000683.2:g.36479750G>C | GRCh38 |
| NC_000021.8:g.37852048G>C , CM000683.1:g.37852048G>C | GRCh37 |
| NC_000021.7:g.36773918G>C | NCBI36 |
| NG_011777.1:g.101820C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000399135.6:c.-337C>G (CLDN14) MANE Select | ENSP00000382087.1:n.-337C>G | |
| ENST00000342108.2:c.-81-17974C>G (CLDN14) | ENSP00000339292.2:n.-81-17974C>G | |
| ENST00000399135.5:c.-337C>G (CLDN14) | ENSP00000382087.1:n.-337C>G | |
| ENST00000399136.5:c.-81-17974C>G (CLDN14) | ENSP00000382088.1:n.-81-17974C>G | |
| ENST00000399137.5:c.-527C>G (CLDN14) | ENSP00000382090.1:n.-527C>G | |
| NM_001146077.1:c.-81-17974C>G (CLDN14) | NP_001139549.1:n.-81-17974C>G | |
| NM_001146078.2:c.-81-17974C>G (CLDN14) | NP_001139550.1:n.-81-17974C>G | |
| NM_001146079.1:c.-337C>G (CLDN14) | NP_001139551.1:n.-337C>G | |
| NM_144492.2:c.-527C>G (CLDN14) | NP_652763.1:n.-527C>G | |
| XM_011529519.1:c.-81-17974C>G (CLDN14) | XP_011527821.1:n.-81-17974C>G | |
| XR_937694.1:n.962-481G>C (CLDN14-AS1) | ||
| XR_937695.1:n.469-481G>C (CLDN14-AS1) | ||
| XR_937696.1:n.853-481G>C (CLDN14-AS1) | ||
| XR_001755024.1:n.1022-481G>C (CLDN14-AS1) | ||
| XR_001755025.1:n.469-481G>C (CLDN14-AS1) | ||
| NM_001146079.2:c.-337C>G (CLDN14) MANE Select | NP_001139551.1:n.-337C>G | |
| NM_001146078.3:c.-81-17974C>G (CLDN14) | NP_001139550.1:n.-81-17974C>G | |
| NM_144492.3:c.-527C>G (CLDN14) | NP_652763.1:n.-527C>G | |
| NM_001146077.2:c.-81-17974C>G (CLDN14) | NP_001139549.1:n.-81-17974C>G |