Linked Data
ClinVar Variation Id:
339907
ClinVar RCV Id:
RCV000327626
dbSNP Id:
rs886057056
gnomAD v2:
21-37852345-C-T
gnomAD v3:
21-36480047-C-T
gnomAD v4:
21-36480047-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.36480047C>T , CM000683.2:g.36480047C>T | GRCh38 |
| NC_000021.8:g.37852345C>T , CM000683.1:g.37852345C>T | GRCh37 |
| NC_000021.7:g.36774215C>T | NCBI36 |
| NG_011777.1:g.101523G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000399135.6:c.-634G>A (CLDN14) MANE Select | ENSP00000382087.1:n.-634G>A | |
| ENST00000342108.2:c.-81-18271G>A (CLDN14) | ENSP00000339292.2:n.-81-18271G>A | |
| ENST00000399135.5:c.-634G>A (CLDN14) | ENSP00000382087.1:n.-634G>A | |
| ENST00000399136.5:c.-81-18271G>A (CLDN14) | ENSP00000382088.1:n.-81-18271G>A | |
| ENST00000399137.5:c.-824G>A (CLDN14) | ENSP00000382090.1:n.-824G>A | |
| NM_001146077.1:c.-81-18271G>A (CLDN14) | NP_001139549.1:n.-81-18271G>A | |
| NM_001146078.2:c.-81-18271G>A (CLDN14) | NP_001139550.1:n.-81-18271G>A | |
| NM_001146079.1:c.-634G>A (CLDN14) | NP_001139551.1:n.-634G>A | |
| NM_144492.2:c.-824G>A (CLDN14) | NP_652763.1:n.-824G>A | |
| XM_011529519.1:c.-81-18271G>A (CLDN14) | XP_011527821.1:n.-81-18271G>A | |
| XR_937694.1:n.962-184C>T (CLDN14-AS1) | ||
| XR_937695.1:n.469-184C>T (CLDN14-AS1) | ||
| XR_937696.1:n.853-184C>T (CLDN14-AS1) | ||
| XR_001755024.1:n.1022-184C>T (CLDN14-AS1) | ||
| XR_001755025.1:n.469-184C>T (CLDN14-AS1) | ||
| NM_001146079.2:c.-634G>A (CLDN14) MANE Select | NP_001139551.1:n.-634G>A | |
| NM_001146078.3:c.-81-18271G>A (CLDN14) | NP_001139550.1:n.-81-18271G>A | |
| NM_144492.3:c.-824G>A (CLDN14) | NP_652763.1:n.-824G>A | |
| NM_001146077.2:c.-81-18271G>A (CLDN14) | NP_001139549.1:n.-81-18271G>A |