Linked Data
dbSNP Id:
rs141961866
gnomAD v2:
3-190039955-G-C
gnomAD v3:
3-190322166-G-C
gnomAD v4:
3-190322166-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.190322166G>C , CM000665.2:g.190322166G>C | GRCh38 |
| NC_000003.11:g.190039955G>C , CM000665.1:g.190039955G>C | GRCh37 |
| NC_000003.10:g.191522649G>C | NCBI36 |
| NG_021418.1:g.5281C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000295522.4:c.41C>G (CLDN1) MANE Select | ENSP00000295522.3:p.Ala14Gly | |
| ENST00000295522.3:c.41C>G (CLDN1) | ENSP00000295522.3:p.Ala14Gly | |
| NM_021101.4:c.41C>G (CLDN1) | NP_066924.1:p.Ala14Gly | |
| NM_021101.5:c.41C>G (CLDN1) MANE Select | NP_066924.1:p.Ala14Gly | |
| NM_001378492.1:c.-279+7107G>C (CLDN16) | NP_001365421.1:n.-279+7107G>C | |
| NM_001378493.1:c.-279+31575G>C (CLDN16) | NP_001365422.1:n.-279+31575G>C |