Canonical Allele Identifier: CA10609942

Gene: CLDN19

Linked Data

• ClinVar Variation Id: 297335
• ClinVar RCV Id: RCV000328599 ; RCV001689980
• dbSNP Id: rs912075
• gnomAD v2: 1-43200526-T-C
• gnomAD v3: 1-42734855-T-C
• gnomAD v4: 1-42734855-T-C
• MyVariant Identifiers: chr1:g.43200526T>C (hg19) ; chr1:g.43200526_43200527delinsCA (hg19) ; chr1:g.42734855T>C (hg38) ; chr1:g.42734855_42734856delinsCA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42734855T>C , CM000663.2:g.42734855T>C	GRCh38
NC_000001.10:g.43200526T>C , CM000663.1:g.43200526T>C	GRCh37
NC_000001.9:g.42973113T>C	NCBI36
NG_008993.1:g.10400A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296387.6:c.*231A>G MANE Select	ENSP00000296387.1:n.*231A>G
ENST00000296387.5:c.*231A>G	ENSP00000296387.1:n.*231A>G
ENST00000539749.5:c.*907A>G	ENSP00000443229.1:n.*907A>G
NM_001123395.1:c.*1013A>G	NP_001116867.1:n.*1013A>G
NM_001185117.1:c.*907A>G	NP_001172046.1:n.*907A>G
NM_148960.2:c.*231A>G	NP_683763.2:n.*231A>G
NM_001123395.2:c.*1013A>G	NP_001116867.1:n.*1013A>G
NM_148960.3:c.*231A>G MANE Select	NP_683763.2:n.*231A>G
NM_001185117.2:c.*907A>G	NP_001172046.1:n.*907A>G