Canonical Allele Identifier: CA1057670533

Gene: CLDN1 CLDN16

Linked Data

• dbSNP Id: rs2108606811
• gnomAD v3: 3-190310166-T-C
• gnomAD v4: 3-190310166-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.190310166T>C , CM000665.2:g.190310166T>C	GRCh38
NC_000003.11:g.190027955T>C , CM000665.1:g.190027955T>C	GRCh37
NC_000003.10:g.191510649T>C	NCBI36
NG_021418.1:g.17281A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295522.4:c.473+3A>G (CLDN1) MANE Select	ENSP00000295522.3:n.473+3A>G
ENST00000295522.3:c.473+3A>G (CLDN1)	ENSP00000295522.3:n.473+3A>G
NM_021101.4:c.473+3A>G (CLDN1)	NP_066924.1:n.473+3A>G
XR_001741069.1:n.203-4727T>C
NM_021101.5:c.473+3A>G (CLDN1) MANE Select	NP_066924.1:n.473+3A>G
NM_001378492.1:c.-445-4727T>C (CLDN16)	NP_001365421.1:n.-445-4727T>C
NM_001378493.1:c.-279+19575T>C (CLDN16)	NP_001365422.1:n.-279+19575T>C