Canonical Allele Identifier: CA117859

Gene: CLDN16

Linked Data

• ClinVar Variation Id: 5926
• ClinVar RCV Id: RCV000006289 ; RCV001851693
• dbSNP Id: rs104893721
• ExAC: 3:190126225 G / A
• gnomAD v2: 3-190126225-G-A
• gnomAD v4: 3-190408436-G-A
• COSMIC: COSM385059
• MyVariant Identifiers: chr3:g.190126225G>A (hg19) ; chr3:g.190408436G>A (hg38)
• PubMed: PMID:10390358 ; PMID:10878661

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.190408436G>A , CM000665.2:g.190408436G>A	GRCh38
NC_000003.11:g.190126225G>A , CM000665.1:g.190126225G>A	GRCh37
NC_000003.10:g.191608919G>A	NCBI36
NG_008149.1:g.25385G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264734.3:c.505G>A MANE Select	ENSP00000264734.3:p.Gly169Arg
ENST00000456423.2:c.115-1467G>A	ENSP00000414136.2:n.115-1467G>A
ENST00000264734.2:c.715G>A	ENSP00000264734.2:p.Gly239Arg
ENST00000456423.1:c.325-1467G>A	ENSP00000414136.1:n.325-1467G>A
NM_006580.3:c.715G>A	NP_006571.1:p.Gly239Arg
NM_001378492.1:c.505G>A	NP_001365421.1:p.Gly169Arg
NM_001378493.1:c.505G>A	NP_001365422.1:p.Gly169Arg
NM_006580.4:c.505G>A MANE Select	NP_006571.2:p.Gly169Arg