Canonical Allele Identifier: CA2753646

Gene: CLDN1 CLDN16

Linked Data

• dbSNP Id: rs370118299
• ExAC: 3:190039962 T / C
• gnomAD v3: 3-190322173-T-C
• gnomAD v4: 3-190322173-T-C
• MyVariant Identifiers: chr3:g.190039962T>C (hg19) ; chr3:g.190322173T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.190322173T>C , CM000665.2:g.190322173T>C	GRCh38
NC_000003.11:g.190039962T>C , CM000665.1:g.190039962T>C	GRCh37
NC_000003.10:g.191522656T>C	NCBI36
NG_021418.1:g.5274A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295522.4:c.34A>G (CLDN1) MANE Select	ENSP00000295522.3:p.Ile12Val
ENST00000295522.3:c.34A>G (CLDN1)	ENSP00000295522.3:p.Ile12Val
NM_021101.4:c.34A>G (CLDN1)	NP_066924.1:p.Ile12Val
NM_021101.5:c.34A>G (CLDN1) MANE Select	NP_066924.1:p.Ile12Val
NM_001378492.1:c.-279+7114T>C (CLDN16)	NP_001365421.1:n.-279+7114T>C
NM_001378493.1:c.-279+31582T>C (CLDN16)	NP_001365422.1:n.-279+31582T>C