Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.190310253C>G , CM000665.2:g.190310253C>G | GRCh38 |
| NC_000003.11:g.190028042C>G , CM000665.1:g.190028042C>G | GRCh37 |
| NC_000003.10:g.191510736C>G | NCBI36 |
| NG_021418.1:g.17194G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000295522.4:c.389G>C (CLDN1) MANE Select | ENSP00000295522.3:p.Gly130Ala | |
| ENST00000295522.3:c.389G>C (CLDN1) | ENSP00000295522.3:p.Gly130Ala | |
| ENST00000490800.1:n.348G>C (CLDN1) | ||
| NM_021101.4:c.389G>C (CLDN1) | NP_066924.1:p.Gly130Ala | |
| XR_001741069.1:n.203-4640C>G | ||
| NM_021101.5:c.389G>C (CLDN1) MANE Select | NP_066924.1:p.Gly130Ala | |
| NM_001378492.1:c.-445-4640C>G (CLDN16) | NP_001365421.1:n.-445-4640C>G | |
| NM_001378493.1:c.-279+19662C>G (CLDN16) | NP_001365422.1:n.-279+19662C>G |