Canonical Allele Identifier: CA2753729

Gene: CLDN16

Linked Data

• ClinVar Variation Id: 3054655
• ClinVar RCV Id: RCV003969573
• dbSNP Id: rs372129081
• ExAC: 3:190106142 C / T
• gnomAD v2: 3-190106142-C-T
• gnomAD v3: 3-190388353-C-T
• gnomAD v4: 3-190388353-C-T
• MyVariant Identifiers: chr3:g.190106142C>T (hg19) ; chr3:g.190388353C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.190388353C>T , CM000665.2:g.190388353C>T	GRCh38
NC_000003.11:g.190106142C>T , CM000665.1:g.190106142C>T	GRCh37
NC_000003.10:g.191588836C>T	NCBI36
NG_008149.1:g.5302C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000264734.3:c.24C>T MANE Select	ENSP00000264734.3:p.Ile8=
ENST00000456423.2:c.24C>T	ENSP00000414136.2:p.Ile8=
ENST00000264734.2:c.234C>T	ENSP00000264734.2:p.Ile78=
ENST00000456423.1:c.234C>T	ENSP00000414136.1:p.Ile78=
ENST00000468220.1:n.306+13750C>T
NM_006580.3:c.234C>T	NP_006571.1:p.Ile78=
NM_001378492.1:c.24C>T	NP_001365421.1:p.Ile8=
NM_001378493.1:c.24C>T	NP_001365422.1:p.Ile8=
NM_006580.4:c.24C>T MANE Select	NP_006571.2:p.Ile8=