Linked Data
gnomAD v4:
3-190322150-G-A
COSMIC:
COSM4769723
MyVariant Identifiers:
chr3:g.190039939G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.190322150G>A , CM000665.2:g.190322150G>A | GRCh38 |
| NC_000003.11:g.190039939G>A , CM000665.1:g.190039939G>A | GRCh37 |
| NC_000003.10:g.191522633G>A | NCBI36 |
| NG_021418.1:g.5297C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000295522.4:c.57C>T (CLDN1) MANE Select | ENSP00000295522.3:p.Ile19= | |
| ENST00000295522.3:c.57C>T (CLDN1) | ENSP00000295522.3:p.Ile19= | |
| NM_021101.4:c.57C>T (CLDN1) | NP_066924.1:p.Ile19= | |
| NM_021101.5:c.57C>T (CLDN1) MANE Select | NP_066924.1:p.Ile19= | |
| NM_001378492.1:c.-279+7091G>A (CLDN16) | NP_001365421.1:n.-279+7091G>A | |
| NM_001378493.1:c.-279+31559G>A (CLDN16) | NP_001365422.1:n.-279+31559G>A |