Linked Data
ClinVar Variation Id:
3062251
ClinVar RCV Id:
RCV003985973
dbSNP Id:
rs1402621591
gnomAD v2:
3-190039977-G-A
gnomAD v4:
3-190322188-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.190322188G>A , CM000665.2:g.190322188G>A | GRCh38 |
| NC_000003.11:g.190039977G>A , CM000665.1:g.190039977G>A | GRCh37 |
| NC_000003.10:g.191522671G>A | NCBI36 |
| NG_021418.1:g.5259C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000295522.4:c.19C>T (CLDN1) MANE Select | ENSP00000295522.3:p.Gln7Ter | |
| ENST00000295522.3:c.19C>T (CLDN1) | ENSP00000295522.3:p.Gln7Ter | |
| NM_021101.4:c.19C>T (CLDN1) | NP_066924.1:p.Gln7Ter | |
| NM_021101.5:c.19C>T (CLDN1) MANE Select | NP_066924.1:p.Gln7Ter | |
| NM_001378492.1:c.-279+7129G>A (CLDN16) | NP_001365421.1:n.-279+7129G>A | |
| NM_001378493.1:c.-279+31597G>A (CLDN16) | NP_001365422.1:n.-279+31597G>A |