Canonical Allele Identifier: CA2753864

Gene: CLDN16

Linked Data

• dbSNP Id: rs570616277
• ExAC: 3:190126124 C / T
• gnomAD v2: 3-190126124-C-T
• gnomAD v3: 3-190408335-C-T
• gnomAD v4: 3-190408335-C-T
• MyVariant Identifiers: chr3:g.190126124C>T (hg19) ; chr3:g.190408335C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.190408335C>T , CM000665.2:g.190408335C>T	GRCh38
NC_000003.11:g.190126124C>T , CM000665.1:g.190126124C>T	GRCh37
NC_000003.10:g.191608818C>T	NCBI36
NG_008149.1:g.25284C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000264734.3:c.404C>T MANE Select	ENSP00000264734.3:p.Ser135Phe
ENST00000456423.2:c.115-1568C>T	ENSP00000414136.2:n.115-1568C>T
ENST00000264734.2:c.614C>T	ENSP00000264734.2:p.Ser205Phe
ENST00000456423.1:c.325-1568C>T	ENSP00000414136.1:n.325-1568C>T
NM_006580.3:c.614C>T	NP_006571.1:p.Ser205Phe
NM_001378492.1:c.404C>T	NP_001365421.1:p.Ser135Phe
NM_001378493.1:c.404C>T	NP_001365422.1:p.Ser135Phe
NM_006580.4:c.404C>T MANE Select	NP_006571.2:p.Ser135Phe