Canonical Allele Identifier: CA10615947
Gene: CLDN16 HGNC NCBI

Linked Data

ClinVar Variation Id: 344455
ClinVar RCV Id: RCV000376270
dbSNP Id: rs886058246
gnomAD v2: 3-190128074-G-A
gnomAD v3: 3-190410285-G-A
gnomAD v4: 3-190410285-G-A
MyVariant Identifiers: chr3:g.190128074G>A (hg19) chr3:g.190410285G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.190410285G>A , CM000665.2:g.190410285G>A GRCh38
NC_000003.11:g.190128074G>A , CM000665.1:g.190128074G>A GRCh37
NC_000003.10:g.191610768G>A NCBI36
NG_008149.1:g.27234G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000264734.3:c.*249G>A MANE Select ENSP00000264734.3:n.*249G>A
ENST00000264734.2:c.*249G>A ENSP00000264734.2:n.*249G>A
NM_006580.3:c.*249G>A NP_006571.1:n.*249G>A
NM_001378492.1:c.*249G>A NP_001365421.1:n.*249G>A
NM_001378493.1:c.*249G>A NP_001365422.1:n.*249G>A
NM_006580.4:c.*249G>A MANE Select NP_006571.2:n.*249G>A
Search 100 bp 5'
Search 100 bp 3'