Canonical Allele Identifier: CA2753674

Gene: CLDN16

Linked Data

• ClinVar Variation Id: 344443
• ClinVar RCV Id: RCV000379857 ; RCV002280116 ; RCV003950211
• dbSNP Id: rs200322099
• ExAC: 3:190105906 A / T
• gnomAD v2: 3-190105906-A-T
• gnomAD v3: 3-190388117-A-T
• gnomAD v4: 3-190388117-A-T
• MyVariant Identifiers: chr3:g.190105906A>T (hg19) ; chr3:g.190388117A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.190388117A>T , CM000665.2:g.190388117A>T	GRCh38
NC_000003.11:g.190105906A>T , CM000665.1:g.190105906A>T	GRCh37
NC_000003.10:g.191588600A>T	NCBI36
NG_008149.1:g.5066A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264734.2:c.-3A>T	ENSP00000264734.2:n.-3A>T
ENST00000468220.1:n.306+13514A>T
NM_006580.3:c.-3A>T	NP_006571.1:n.-3A>T
NM_001378492.1:c.-93-120A>T	NP_001365421.1:n.-93-120A>T
NM_001378493.1:c.-93-120A>T	NP_001365422.1:n.-93-120A>T