Linked Data
ClinVar Variation Id:
593448
ClinVar RCV Id:
RCV000728483
dbSNP Id:
rs781556791
ExAC:
3:190027999 G / A
gnomAD v2:
3-190027999-G-A
gnomAD v3:
3-190310210-G-A
gnomAD v4:
3-190310210-G-A
COSMIC:
COSM3333177
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.190310210G>A , CM000665.2:g.190310210G>A | GRCh38 |
| NC_000003.11:g.190027999G>A , CM000665.1:g.190027999G>A | GRCh37 |
| NC_000003.10:g.191510693G>A | NCBI36 |
| NG_021418.1:g.17237C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000295522.4:c.432C>T (CLDN1) MANE Select | ENSP00000295522.3:p.Ile144= | |
| ENST00000295522.3:c.432C>T (CLDN1) | ENSP00000295522.3:p.Ile144= | |
| ENST00000490800.1:n.391C>T (CLDN1) | ||
| NM_021101.4:c.432C>T (CLDN1) | NP_066924.1:p.Ile144= | |
| XR_001741069.1:n.203-4683G>A | ||
| NM_021101.5:c.432C>T (CLDN1) MANE Select | NP_066924.1:p.Ile144= | |
| NM_001378492.1:c.-445-4683G>A (CLDN16) | NP_001365421.1:n.-445-4683G>A | |
| NM_001378493.1:c.-279+19619G>A (CLDN16) | NP_001365422.1:n.-279+19619G>A |