Canonical Allele Identifier: CA199735
Gene: JAGN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 190479
ClinVar RCV Id: RCV000170601 RCV002515222
dbSNP Id: rs777966677
ExAC: 3:9932465 G / A
gnomAD v2: 3-9932465-G-A
gnomAD v3: 3-9890781-G-A
gnomAD v4: 3-9890781-G-A
MyVariant Identifiers: chr3:g.9932465G>A (hg19) chr3:g.9890781G>A (hg38)
PubMed: PMID:25129144
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.9890781G>A , CM000665.2:g.9890781G>A GRCh38
NC_000003.11:g.9932465G>A , CM000665.1:g.9932465G>A GRCh37
NC_000003.10:g.9907465G>A NCBI36
NG_041779.1:g.5195G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000489724.2:c.59G>A ENSP00000497724.1:p.Arg20Gln
ENST00000647897.1:c.59G>A MANE Select ENSP00000496942.1:p.Arg20Gln
ENST00000307768.4:c.59G>A ENSP00000306106.4:p.Arg20Gln
ENST00000489724.1:n.149G>A
ENST00000616966.2:c.59G>A ENSP00000481606.1:p.Arg20Gln
NM_032492.3:c.59G>A NP_115881.3:p.Arg20Gln
NM_001363890.1:c.-210G>A NP_001350819.1:n.-210G>A
NM_032492.4:c.59G>A MANE Select NP_115881.3:p.Arg20Gln
Search 100 bp 5'
Search 100 bp 3'