Canonical Allele Identifier: CA2753780

Gene: CLDN16

Linked Data

• dbSNP Id: rs766383362
• ExAC: 3:190120188 C / A
• gnomAD v2: 3-190120188-C-A
• gnomAD v4: 3-190402399-C-A
• MyVariant Identifiers: chr3:g.190120188C>A (hg19) ; chr3:g.190402399C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.190402399C>A , CM000665.2:g.190402399C>A	GRCh38
NC_000003.11:g.190120188C>A , CM000665.1:g.190120188C>A	GRCh37
NC_000003.10:g.191602882C>A	NCBI36
NG_008149.1:g.19348C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264734.3:c.177C>A MANE Select	ENSP00000264734.3:p.Arg59=
ENST00000456423.2:c.115-7504C>A	ENSP00000414136.2:n.115-7504C>A
ENST00000264734.2:c.387C>A	ENSP00000264734.2:p.Arg129=
ENST00000456423.1:c.325-7504C>A	ENSP00000414136.1:n.325-7504C>A
ENST00000468220.1:n.369C>A
NM_006580.3:c.387C>A	NP_006571.1:p.Arg129=
NM_001378492.1:c.177C>A	NP_001365421.1:p.Arg59=
NM_001378493.1:c.177C>A	NP_001365422.1:p.Arg59=
NM_006580.4:c.177C>A MANE Select	NP_006571.2:p.Arg59=