Canonical Allele Identifier: CA2245795
Gene: JAGN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 841147
ClinVar RCV Id: RCV001043310
dbSNP Id: rs146967886
ExAC: 3:9932470 C / T
gnomAD v2: 3-9932470-C-T
gnomAD v3: 3-9890786-C-T
gnomAD v4: 3-9890786-C-T
MyVariant Identifiers: chr3:g.9932470C>T (hg19) chr3:g.9890786C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.9890786C>T , CM000665.2:g.9890786C>T GRCh38
NC_000003.11:g.9932470C>T , CM000665.1:g.9932470C>T GRCh37
NC_000003.10:g.9907470C>T NCBI36
NG_041779.1:g.5200C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000489724.2:c.64C>T ENSP00000497724.1:p.Arg22Cys
ENST00000647897.1:c.64C>T MANE Select ENSP00000496942.1:p.Arg22Cys
ENST00000307768.4:c.64C>T ENSP00000306106.4:p.Arg22Cys
ENST00000489724.1:n.154C>T
ENST00000616966.2:c.64C>T ENSP00000481606.1:p.Arg22Cys
NM_032492.3:c.64C>T NP_115881.3:p.Arg22Cys
NM_001363890.1:c.-205C>T NP_001350819.1:n.-205C>T
NM_032492.4:c.64C>T MANE Select NP_115881.3:p.Arg22Cys
Search 100 bp 5'
Search 100 bp 3'