ClinGen Allele Registry
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Canonical Allele Identifier:
CA355762136
Gene: CLDN16
HGNC
NCBI
Linked Data
gnomAD v4:
3-190388139-T-A
MyVariant Identifiers:
chr3:g.190105928T>A (hg19)
chr3:g.190388139T>A (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000003.12:g.190388139T>A , CM000665.2:g.190388139T>A
GRCh38
NC_000003.11:g.190105928T>A , CM000665.1:g.190105928T>A
GRCh37
NC_000003.10:g.191588622T>A
NCBI36
NG_008149.1:g.5088T>A
Transcript Alleles
HGVS
Amino-acid Change
ENST00000456423.2:c.-191T>A
ENSP00000414136.2:n.-191T>A
ENST00000264734.2:c.20T>A
ENSP00000264734.2:p.Leu7Gln
ENST00000456423.1:c.20T>A
ENSP00000414136.1:p.Leu7Gln
ENST00000468220.1:n.306+13536T>A
NM_006580.3:c.20T>A
NP_006571.1:p.Leu7Gln
NM_001378492.1:c.-93-98T>A
NP_001365421.1:n.-93-98T>A
NM_001378493.1:c.-93-98T>A
NP_001365422.1:n.-93-98T>A
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