Canonical Allele Identifier: CA10611177
Gene: CLDN19 HGNC NCBI

Linked Data

ClinVar Variation Id: 297318
ClinVar RCV Id: RCV000345414
dbSNP Id: rs56345167
gnomAD v2: 1-43199115-A-G
gnomAD v3: 1-42733444-A-G
gnomAD v4: 1-42733444-A-G
MyVariant Identifiers: chr1:g.43199115A>G (hg19) chr1:g.42733444A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.42733444A>G , CM000663.2:g.42733444A>G GRCh38
NC_000001.10:g.43199115A>G , CM000663.1:g.43199115A>G GRCh37
NC_000001.9:g.42971702A>G NCBI36
NG_008993.1:g.11811T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000296387.6:c.*1642T>C MANE Select ENSP00000296387.1:n.*1642T>C
ENST00000296387.5:c.*1642T>C ENSP00000296387.1:n.*1642T>C
ENST00000539749.5:c.*2318T>C ENSP00000443229.1:n.*2318T>C
NM_001123395.1:c.*2424T>C NP_001116867.1:n.*2424T>C
NM_001185117.1:c.*2318T>C NP_001172046.1:n.*2318T>C
NM_148960.2:c.*1642T>C NP_683763.2:n.*1642T>C
NM_001123395.2:c.*2424T>C NP_001116867.1:n.*2424T>C
NM_148960.3:c.*1642T>C MANE Select NP_683763.2:n.*1642T>C
NM_001185117.2:c.*2318T>C NP_001172046.1:n.*2318T>C
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