Linked Data
dbSNP Id:
rs757249673
ExAC:
3:190027973 G / T
gnomAD v2:
3-190027973-G-T
gnomAD v4:
3-190310184-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.190310184G>T , CM000665.2:g.190310184G>T | GRCh38 |
| NC_000003.11:g.190027973G>T , CM000665.1:g.190027973G>T | GRCh37 |
| NC_000003.10:g.191510667G>T | NCBI36 |
| NG_021418.1:g.17263C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000295522.4:c.458C>A (CLDN1) MANE Select | ENSP00000295522.3:p.Thr153Asn | |
| ENST00000295522.3:c.458C>A (CLDN1) | ENSP00000295522.3:p.Thr153Asn | |
| ENST00000490800.1:n.417C>A (CLDN1) | ||
| NM_021101.4:c.458C>A (CLDN1) | NP_066924.1:p.Thr153Asn | |
| XR_001741069.1:n.203-4709G>T | ||
| NM_021101.5:c.458C>A (CLDN1) MANE Select | NP_066924.1:p.Thr153Asn | |
| NM_001378492.1:c.-445-4709G>T (CLDN16) | NP_001365421.1:n.-445-4709G>T | |
| NM_001378493.1:c.-279+19593G>T (CLDN16) | NP_001365422.1:n.-279+19593G>T |