Canonical Allele Identifier: CA114955

Gene: CLDN19

Linked Data

• ClinVar Variation Id: 1361
• ClinVar RCV Id: RCV000001426 ; RCV000823362 ; RCV003924792
• dbSNP Id: rs118203979
• ExAC: 1:43205676 C / T
• gnomAD v2: 1-43205676-C-T
• gnomAD v3: 1-42740005-C-T
• gnomAD v4: 1-42740005-C-T
• MyVariant Identifiers: chr1:g.43205676C>T (hg19) ; chr1:g.42740005C>T (hg38)
• PubMed: PMID:17033971

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42740005C>T , CM000663.2:g.42740005C>T	GRCh38
NC_000001.10:g.43205676C>T , CM000663.1:g.43205676C>T	GRCh37
NC_000001.9:g.42978263C>T	NCBI36
NG_008993.1:g.5250G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296387.6:c.59G>A MANE Select	ENSP00000296387.1:p.Gly20Asp
ENST00000296387.5:c.59G>A	ENSP00000296387.1:p.Gly20Asp
ENST00000372539.3:c.59G>A	ENSP00000361617.3:p.Gly20Asp
ENST00000539749.5:c.59G>A	ENSP00000443229.1:p.Gly20Asp
NM_001123395.1:c.59G>A	NP_001116867.1:p.Gly20Asp
NM_001185117.1:c.59G>A	NP_001172046.1:p.Gly20Asp
NM_148960.2:c.59G>A	NP_683763.2:p.Gly20Asp
NM_001123395.2:c.59G>A	NP_001116867.1:p.Gly20Asp
NM_148960.3:c.59G>A MANE Select	NP_683763.2:p.Gly20Asp
NM_001185117.2:c.59G>A	NP_001172046.1:p.Gly20Asp