Canonical Allele Identifier: CA2245797
Gene: JAGN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 577875
ClinVar RCV Id: RCV000700731
dbSNP Id: rs377495463
ExAC: 3:9932477 C / T
gnomAD v2: 3-9932477-C-T
gnomAD v3: 3-9890793-C-T
gnomAD v4: 3-9890793-C-T
MyVariant Identifiers: chr3:g.9932477C>T (hg19) chr3:g.9890793C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.9890793C>T , CM000665.2:g.9890793C>T GRCh38
NC_000003.11:g.9932477C>T , CM000665.1:g.9932477C>T GRCh37
NC_000003.10:g.9907477C>T NCBI36
NG_041779.1:g.5207C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000489724.2:c.71C>T ENSP00000497724.1:p.Ala24Val
ENST00000647897.1:c.71C>T MANE Select ENSP00000496942.1:p.Ala24Val
ENST00000307768.4:c.71C>T ENSP00000306106.4:p.Ala24Val
ENST00000489724.1:n.161C>T
ENST00000616966.2:c.71C>T ENSP00000481606.1:p.Ala24Val
NM_032492.3:c.71C>T NP_115881.3:p.Ala24Val
NM_001363890.1:c.-198C>T NP_001350819.1:n.-198C>T
NM_032492.4:c.71C>T MANE Select NP_115881.3:p.Ala24Val
Search 100 bp 5'
Search 100 bp 3'