Canonical Allele Identifier: CA2753683

Gene: CLDN16

Linked Data

• dbSNP Id: rs748133024
• ExAC: 3:190105944 T / C
• gnomAD v2: 3-190105944-T-C
• gnomAD v4: 3-190388155-T-C
• MyVariant Identifiers: chr3:g.190105944T>C (hg19) ; chr3:g.190388155T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.190388155T>C , CM000665.2:g.190388155T>C	GRCh38
NC_000003.11:g.190105944T>C , CM000665.1:g.190105944T>C	GRCh37
NC_000003.10:g.191588638T>C	NCBI36
NG_008149.1:g.5104T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456423.2:c.-175T>C	ENSP00000414136.2:n.-175T>C
ENST00000264734.2:c.36T>C	ENSP00000264734.2:p.Cys12=
ENST00000456423.1:c.36T>C	ENSP00000414136.1:p.Cys12=
ENST00000468220.1:n.306+13552T>C
NM_006580.3:c.36T>C	NP_006571.1:p.Cys12=
NM_001378492.1:c.-93-82T>C	NP_001365421.1:n.-93-82T>C
NM_001378493.1:c.-93-82T>C	NP_001365422.1:n.-93-82T>C