Canonical Allele Identifier: CA355766039

Gene: CLDN16

Linked Data

• dbSNP Id: rs1403200551
• gnomAD v2: 3-190122592-A-G
• gnomAD v3: 3-190404803-A-G
• gnomAD v4: 3-190404803-A-G
• MyVariant Identifiers: chr3:g.190122592A>G (hg19) ; chr3:g.190404803A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.190404803A>G , CM000665.2:g.190404803A>G	GRCh38
NC_000003.11:g.190122592A>G , CM000665.1:g.190122592A>G	GRCh37
NC_000003.10:g.191605286A>G	NCBI36
NG_008149.1:g.21752A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264734.3:c.259A>G MANE Select	ENSP00000264734.3:p.Ile87Val
ENST00000456423.2:c.115-5100A>G	ENSP00000414136.2:n.115-5100A>G
ENST00000264734.2:c.469A>G	ENSP00000264734.2:p.Ile157Val
ENST00000456423.1:c.325-5100A>G	ENSP00000414136.1:n.325-5100A>G
ENST00000468220.1:n.451A>G
NM_006580.3:c.469A>G	NP_006571.1:p.Ile157Val
NM_001378492.1:c.259A>G	NP_001365421.1:p.Ile87Val
NM_001378493.1:c.259A>G	NP_001365422.1:p.Ile87Val
NM_006580.4:c.259A>G MANE Select	NP_006571.2:p.Ile87Val