Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.190322190A= , CM000665.2:g.190322190A= | GRCh38 |
| NC_000003.11:g.190039979A= , CM000665.1:g.190039979A= | GRCh37 |
| NC_000003.10:g.191522673A= | NCBI36 |
| NG_021418.1:g.5257T= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000295522.4:c.17T= (CLDN1) MANE Select | ENSP00000295522.3:p.Leu6= | |
| ENST00000295522.3:c.17T= (CLDN1) | ENSP00000295522.3:p.Leu6= | |
| NM_021101.4:c.17T= (CLDN1) | NP_066924.1:p.Leu6= | |
| NM_021101.5:c.17T= (CLDN1) MANE Select | NP_066924.1:p.Leu6= | |
| NM_001378492.1:c.-279+7131A= (CLDN16) | NP_001365421.1:n.-279+7131A= | |
| NM_001378493.1:c.-279+31599A= (CLDN16) | NP_001365422.1:n.-279+31599A= |