Canonical Allele Identifier: CA114956
Gene: CLDN19 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.42739895G>C
GRCh37 chr1:g.43205566G>C
Revel Score:
ENST00000296387 (MANE Select) 0.840
ENST00000539749 0.840
ENST00000372539 0.840
ClinVar RCV:
RCV000001427
ClinVar Variation:
1362
dbSNP:
118203980
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.42739895G>C , CM000663.2:g.42739895G>C GRCh38
NC_000001.10:g.43205566G>C , CM000663.1:g.43205566G>C GRCh37
NC_000001.9:g.42978153G>C NCBI36
NG_008993.1:g.5360C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000296387.6:c.169C>G MANE Select ENSP00000296387.1:p.Gln57Glu
ENST00000296387.5:c.169C>G ENSP00000296387.1:p.Gln57Glu
ENST00000372539.3:c.169C>G ENSP00000361617.3:p.Gln57Glu
ENST00000539749.5:c.169C>G ENSP00000443229.1:p.Gln57Glu
NM_001123395.1:c.169C>G NP_001116867.1:p.Gln57Glu
NM_001185117.1:c.169C>G NP_001172046.1:p.Gln57Glu
NM_148960.2:c.169C>G NP_683763.2:p.Gln57Glu
NM_001123395.2:c.169C>G NP_001116867.1:p.Gln57Glu
NM_148960.3:c.169C>G MANE Select NP_683763.2:p.Gln57Glu
NM_001185117.2:c.169C>G NP_001172046.1:p.Gln57Glu
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