Canonical Allele Identifier: CA2753816

Gene: CLDN16

Linked Data

• dbSNP Id: rs778765191
• ExAC: 3:190122552 G / A
• gnomAD v2: 3-190122552-G-A
• gnomAD v4: 3-190404763-G-A
• MyVariant Identifiers: chr3:g.190122552G>A (hg19) ; chr3:g.190404763G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.190404763G>A , CM000665.2:g.190404763G>A	GRCh38
NC_000003.11:g.190122552G>A , CM000665.1:g.190122552G>A	GRCh37
NC_000003.10:g.191605246G>A	NCBI36
NG_008149.1:g.21712G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000264734.3:c.219G>A MANE Select	ENSP00000264734.3:p.Leu73=
ENST00000456423.2:c.115-5140G>A	ENSP00000414136.2:n.115-5140G>A
ENST00000264734.2:c.429G>A	ENSP00000264734.2:p.Leu143=
ENST00000456423.1:c.325-5140G>A	ENSP00000414136.1:n.325-5140G>A
ENST00000468220.1:n.411G>A
NM_006580.3:c.429G>A	NP_006571.1:p.Leu143=
NM_001378492.1:c.219G>A	NP_001365421.1:p.Leu73=
NM_001378493.1:c.219G>A	NP_001365422.1:p.Leu73=
NM_006580.4:c.219G>A MANE Select	NP_006571.2:p.Leu73=