Canonical Allele Identifier: CA801342
Gene: CLDN19 HGNC NCBI

Linked Data

ClinVar Variation Id: 297341
ClinVar RCV Id: RCV000336220 RCV001522250 RCV001702415
dbSNP Id: rs9660973
ExAC: 1:43201614 C / T
gnomAD v2: 1-43201614-C-T
gnomAD v3: 1-42735943-C-T
gnomAD v4: 1-42735943-C-T
MyVariant Identifiers: chr1:g.43201614C>T (hg19) chr1:g.42735943C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.42735943C>T , CM000663.2:g.42735943C>T GRCh38
NC_000001.10:g.43201614C>T , CM000663.1:g.43201614C>T GRCh37
NC_000001.9:g.42974201C>T NCBI36
NG_008993.1:g.9312G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000296387.6:c.561G>A MANE Select ENSP00000296387.1:p.Pro187=
ENST00000296387.5:c.561G>A ENSP00000296387.1:p.Pro187=
ENST00000372539.3:c.561G>A ENSP00000361617.3:p.Pro187=
ENST00000539749.5:c.476G>A ENSP00000443229.1:p.Arg159Gln
NM_001123395.1:c.561G>A NP_001116867.1:p.Pro187=
NM_001185117.1:c.476G>A NP_001172046.1:p.Arg159Gln
NM_148960.2:c.561G>A NP_683763.2:p.Pro187=
NM_001123395.2:c.561G>A NP_001116867.1:p.Pro187=
NM_148960.3:c.561G>A MANE Select NP_683763.2:p.Pro187=
NM_001185117.2:c.476G>A NP_001172046.1:p.Arg159Gln
Search 100 bp 5'
Search 100 bp 3'