Canonical Allele Identifier: CA10611200

Gene: CLDN19

Linked Data

• ClinVar Variation Id: 297337
• ClinVar RCV Id: RCV000293636 ; RCV001683193
• dbSNP Id: rs77236131
• gnomAD v2: 1-43200666-T-C
• gnomAD v3: 1-42734995-T-C
• gnomAD v4: 1-42734995-T-C
• MyVariant Identifiers: chr1:g.43200666T>C (hg19) ; chr1:g.42734995T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42734995T>C , CM000663.2:g.42734995T>C	GRCh38
NC_000001.10:g.43200666T>C , CM000663.1:g.43200666T>C	GRCh37
NC_000001.9:g.42973253T>C	NCBI36
NG_008993.1:g.10260A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296387.6:c.*91A>G MANE Select	ENSP00000296387.1:n.*91A>G
ENST00000296387.5:c.*91A>G	ENSP00000296387.1:n.*91A>G
ENST00000372539.3:c.*873A>G	ENSP00000361617.3:n.*873A>G
ENST00000539749.5:c.*767A>G	ENSP00000443229.1:n.*767A>G
NM_001123395.1:c.*873A>G	NP_001116867.1:n.*873A>G
NM_001185117.1:c.*767A>G	NP_001172046.1:n.*767A>G
NM_148960.2:c.*91A>G	NP_683763.2:n.*91A>G
NM_001123395.2:c.*873A>G	NP_001116867.1:n.*873A>G
NM_148960.3:c.*91A>G MANE Select	NP_683763.2:n.*91A>G
NM_001185117.2:c.*767A>G	NP_001172046.1:n.*767A>G