Canonical Allele Identifier: CA355766096

Gene: CLDN16

Linked Data

• gnomAD v4: 3-190404831-T-A
• MyVariant Identifiers: chr3:g.190122620T>A (hg19) ; chr3:g.190404831T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.190404831T>A , CM000665.2:g.190404831T>A	GRCh38
NC_000003.11:g.190122620T>A , CM000665.1:g.190122620T>A	GRCh37
NC_000003.10:g.191605314T>A	NCBI36
NG_008149.1:g.21780T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264734.3:c.287T>A MANE Select	ENSP00000264734.3:p.Leu96Gln
ENST00000456423.2:c.115-5072T>A	ENSP00000414136.2:n.115-5072T>A
ENST00000264734.2:c.497T>A	ENSP00000264734.2:p.Leu166Gln
ENST00000456423.1:c.325-5072T>A	ENSP00000414136.1:n.325-5072T>A
ENST00000468220.1:n.479T>A
NM_006580.3:c.497T>A	NP_006571.1:p.Leu166Gln
NM_001378492.1:c.287T>A	NP_001365421.1:p.Leu96Gln
NM_001378493.1:c.287T>A	NP_001365422.1:p.Leu96Gln
NM_006580.4:c.287T>A MANE Select	NP_006571.2:p.Leu96Gln