Linked Data
ClinVar Variation Id:
3145454
ClinVar RCV Id:
RCV004444295
dbSNP Id:
rs150983709
ExAC:
3:190027998 C / T
gnomAD v2:
3-190027998-C-T
gnomAD v3:
3-190310209-C-T
gnomAD v4:
3-190310209-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.190310209C>T , CM000665.2:g.190310209C>T | GRCh38 |
| NC_000003.11:g.190027998C>T , CM000665.1:g.190027998C>T | GRCh37 |
| NC_000003.10:g.191510692C>T | NCBI36 |
| NG_021418.1:g.17238G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000295522.4:c.433G>A (CLDN1) MANE Select | ENSP00000295522.3:p.Val145Ile | |
| ENST00000295522.3:c.433G>A (CLDN1) | ENSP00000295522.3:p.Val145Ile | |
| ENST00000490800.1:n.392G>A (CLDN1) | ||
| NM_021101.4:c.433G>A (CLDN1) | NP_066924.1:p.Val145Ile | |
| XR_001741069.1:n.203-4684C>T | ||
| NM_021101.5:c.433G>A (CLDN1) MANE Select | NP_066924.1:p.Val145Ile | |
| NM_001378492.1:c.-445-4684C>T (CLDN16) | NP_001365421.1:n.-445-4684C>T | |
| NM_001378493.1:c.-279+19618C>T (CLDN16) | NP_001365422.1:n.-279+19618C>T |