Canonical Allele Identifier: CA548498463

Gene: CLDN16

Linked Data

• dbSNP Id: rs1323722155
• gnomAD v2: 3-190122899-C-T
• gnomAD v3: 3-190405110-C-T
• gnomAD v4: 3-190405110-C-T
• MyVariant Identifiers: chr3:g.190122899C>T (hg19) ; chr3:g.190405110C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.190405110C>T , CM000665.2:g.190405110C>T	GRCh38
NC_000003.11:g.190122899C>T , CM000665.1:g.190122899C>T	GRCh37
NC_000003.10:g.191605593C>T	NCBI36
NG_008149.1:g.22059C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264734.3:c.382+184C>T MANE Select	ENSP00000264734.3:n.382+184C>T
ENST00000456423.2:c.115-4793C>T	ENSP00000414136.2:n.115-4793C>T
ENST00000264734.2:c.592+184C>T	ENSP00000264734.2:n.592+184C>T
ENST00000456423.1:c.325-4793C>T	ENSP00000414136.1:n.325-4793C>T
NM_006580.3:c.592+184C>T	NP_006571.1:n.592+184C>T
NM_001378492.1:c.382+184C>T	NP_001365421.1:n.382+184C>T
NM_001378493.1:c.382+184C>T	NP_001365422.1:n.382+184C>T
NM_006580.4:c.382+184C>T MANE Select	NP_006571.2:n.382+184C>T