Canonical Allele Identifier: CA2753763

Gene: CLDN16

Linked Data

• ClinVar Variation Id: 344449
• ClinVar RCV Id: RCV000369762 ; RCV000921476
• dbSNP Id: rs528344809
• ExAC: 3:190120128 G / A
• gnomAD v2: 3-190120128-G-A
• gnomAD v3: 3-190402339-G-A
• gnomAD v4: 3-190402339-G-A
• MyVariant Identifiers: chr3:g.190120128G>A (hg19) ; chr3:g.190402339G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.190402339G>A , CM000665.2:g.190402339G>A	GRCh38
NC_000003.11:g.190120128G>A , CM000665.1:g.190120128G>A	GRCh37
NC_000003.10:g.191602822G>A	NCBI36
NG_008149.1:g.19288G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264734.3:c.117G>A MANE Select	ENSP00000264734.3:p.Val39=
ENST00000456423.2:c.115-7564G>A	ENSP00000414136.2:n.115-7564G>A
ENST00000264734.2:c.327G>A	ENSP00000264734.2:p.Val109=
ENST00000456423.1:c.325-7564G>A	ENSP00000414136.1:n.325-7564G>A
ENST00000468220.1:n.309G>A
NM_006580.3:c.327G>A	NP_006571.1:p.Val109=
NM_001378492.1:c.117G>A	NP_001365421.1:p.Val39=
NM_001378493.1:c.117G>A	NP_001365422.1:p.Val39=
NM_006580.4:c.117G>A MANE Select	NP_006571.2:p.Val39=