Canonical Allele Identifier: CA214503
Gene: JAGN1 HGNC NCBI
MyVariant.info:
GRCh38 chr3:g.9890725G>A
GRCh37 chr3:g.9932409G>A
Revel Score:
ENST00000307768 0.867
ENST00000543379 0.867
gnomAD v2:
3:9932409 G / A
gnomAD v3:
3:9890725 G / A
gnomAD v4:
chr3-9890725-G-A
Joint Max Group AF 0.00012969 (AMR)
Genomes Max Group AF 0.00005283 (AMR)
Exomes Max Group AF 0.00012343 (AMR)
ClinVar Allele:
165912
ClinVar RCV:
RCV000144162
RCV000170600
RCV001785475
ClinVar Variation:
156113
dbSNP:
587777727
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.9890725G>A , CM000665.2:g.9890725G>A GRCh38
NC_000003.11:g.9932409G>A , CM000665.1:g.9932409G>A GRCh37
NC_000003.10:g.9907409G>A NCBI36
NG_041779.1:g.5139G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000489724.2:c.3G>A ENSP00000497724.1:p.Met1Ile
ENST00000647897.1:c.3G>A MANE Select ENSP00000496942.1:p.Met1Ile
ENST00000307768.4:c.3G>A ENSP00000306106.4:p.Met1Ile
ENST00000489724.1:n.93G>A
ENST00000616966.2:c.3G>A ENSP00000481606.1:p.Met1Ile
NM_032492.3:c.3G>A NP_115881.3:p.Met1Ile
NM_001363890.1:c.-266G>A NP_001350819.1:n.-266G>A
NM_032492.4:c.3G>A MANE Select NP_115881.3:p.Met1Ile
Search 100 bp 5'
Search 100 bp 3'