Canonical Allele Identifier: CA2753845

Gene: CLDN16

Linked Data

• dbSNP Id: rs753395110
• ExAC: 3:190122714 A / G
• gnomAD v2: 3-190122714-A-G
• gnomAD v4: 3-190404925-A-G
• MyVariant Identifiers: chr3:g.190122714A>G (hg19) ; chr3:g.190404925A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.190404925A>G , CM000665.2:g.190404925A>G	GRCh38
NC_000003.11:g.190122714A>G , CM000665.1:g.190122714A>G	GRCh37
NC_000003.10:g.191605408A>G	NCBI36
NG_008149.1:g.21874A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264734.3:c.381A>G MANE Select	ENSP00000264734.3:p.Ala127=
ENST00000456423.2:c.115-4978A>G	ENSP00000414136.2:n.115-4978A>G
ENST00000264734.2:c.591A>G	ENSP00000264734.2:p.Ala197=
ENST00000456423.1:c.325-4978A>G	ENSP00000414136.1:n.325-4978A>G
ENST00000468220.1:n.573A>G
NM_006580.3:c.591A>G	NP_006571.1:p.Ala197=
NM_001378492.1:c.381A>G	NP_001365421.1:p.Ala127=
NM_001378493.1:c.381A>G	NP_001365422.1:p.Ala127=
NM_006580.4:c.381A>G MANE Select	NP_006571.2:p.Ala127=