Canonical Allele Identifier: CA2753678

Gene: CLDN16

Linked Data

• dbSNP Id: rs758074559
• ExAC: 3:190105921 A / G
• gnomAD v2: 3-190105921-A-G
• gnomAD v4: 3-190388132-A-G
• MyVariant Identifiers: chr3:g.190105921A>G (hg19) ; chr3:g.190388132A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.190388132A>G , CM000665.2:g.190388132A>G	GRCh38
NC_000003.11:g.190105921A>G , CM000665.1:g.190105921A>G	GRCh37
NC_000003.10:g.191588615A>G	NCBI36
NG_008149.1:g.5081A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456423.2:c.-198A>G	ENSP00000414136.2:n.-198A>G
ENST00000264734.2:c.13A>G	ENSP00000264734.2:p.Thr5Ala
ENST00000456423.1:c.13A>G	ENSP00000414136.1:p.Thr5Ala
ENST00000468220.1:n.306+13529A>G
NM_006580.3:c.13A>G	NP_006571.1:p.Thr5Ala
NM_001378492.1:c.-93-105A>G	NP_001365421.1:n.-93-105A>G
NM_001378493.1:c.-93-105A>G	NP_001365422.1:n.-93-105A>G