Canonical Allele Identifier: CA355766978
Gene: CLDN16 HGNC NCBI

Linked Data

ClinVar Variation Id: 1464906
ClinVar RCV Id: RCV001979241
dbSNP Id: rs1270704258
gnomAD v4: 3-190408346-G-A
MyVariant Identifiers: chr3:g.190126135G>A (hg19) chr3:g.190408346G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.190408346G>A , CM000665.2:g.190408346G>A GRCh38
NC_000003.11:g.190126135G>A , CM000665.1:g.190126135G>A GRCh37
NC_000003.10:g.191608829G>A NCBI36
NG_008149.1:g.25295G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000264734.3:c.415G>A MANE Select ENSP00000264734.3:p.Ala139Thr
ENST00000456423.2:c.115-1557G>A ENSP00000414136.2:n.115-1557G>A
ENST00000264734.2:c.625G>A ENSP00000264734.2:p.Ala209Thr
ENST00000456423.1:c.325-1557G>A ENSP00000414136.1:n.325-1557G>A
NM_006580.3:c.625G>A NP_006571.1:p.Ala209Thr
NM_001378492.1:c.415G>A NP_001365421.1:p.Ala139Thr
NM_001378493.1:c.415G>A NP_001365422.1:p.Ala139Thr
NM_006580.4:c.415G>A MANE Select NP_006571.2:p.Ala139Thr
Search 100 bp 5'
Search 100 bp 3'