Canonical Allele Identifier: CA2753773

Gene: CLDN16

Linked Data

• dbSNP Id: rs747440607
• ExAC: 3:190120174 T / C
• gnomAD v2: 3-190120174-T-C
• gnomAD v4: 3-190402385-T-C
• MyVariant Identifiers: chr3:g.190120174T>C (hg19) ; chr3:g.190402385T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.190402385T>C , CM000665.2:g.190402385T>C	GRCh38
NC_000003.11:g.190120174T>C , CM000665.1:g.190120174T>C	GRCh37
NC_000003.10:g.191602868T>C	NCBI36
NG_008149.1:g.19334T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264734.3:c.163T>C MANE Select	ENSP00000264734.3:p.Phe55Leu
ENST00000456423.2:c.115-7518T>C	ENSP00000414136.2:n.115-7518T>C
ENST00000264734.2:c.373T>C	ENSP00000264734.2:p.Phe125Leu
ENST00000456423.1:c.325-7518T>C	ENSP00000414136.1:n.325-7518T>C
ENST00000468220.1:n.355T>C
NM_006580.3:c.373T>C	NP_006571.1:p.Phe125Leu
NM_001378492.1:c.163T>C	NP_001365421.1:p.Phe55Leu
NM_001378493.1:c.163T>C	NP_001365422.1:p.Phe55Leu
NM_006580.4:c.163T>C MANE Select	NP_006571.2:p.Phe55Leu