Canonical Allele Identifier: CA69984372
Gene: JAGN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2076435
ClinVar RCV Id: RCV002979283
dbSNP Id: rs945392170
gnomAD v3: 3-9890796-T-C
gnomAD v4: 3-9890796-T-C
MyVariant Identifiers: chr3:g.9932480T>C (hg19) chr3:g.9890796T>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.9890796T>C , CM000665.2:g.9890796T>C GRCh38
NC_000003.11:g.9932480T>C , CM000665.1:g.9932480T>C GRCh37
NC_000003.10:g.9907480T>C NCBI36
NG_041779.1:g.5210T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000489724.2:c.74T>C ENSP00000497724.1:p.Met25Thr
ENST00000647897.1:c.74T>C MANE Select ENSP00000496942.1:p.Met25Thr
ENST00000307768.4:c.74T>C ENSP00000306106.4:p.Met25Thr
ENST00000489724.1:n.164T>C
ENST00000616966.2:c.74T>C ENSP00000481606.1:p.Met25Thr
NM_032492.3:c.74T>C NP_115881.3:p.Met25Thr
NM_001363890.1:c.-195T>C NP_001350819.1:n.-195T>C
NM_032492.4:c.74T>C MANE Select NP_115881.3:p.Met25Thr
Search 100 bp 5'
Search 100 bp 3'