Canonical Allele Identifier: CA540882771

Gene: JAGN1

Linked Data

• dbSNP Id: rs1267831631
• gnomAD v2: 3-9932546-C-G
• gnomAD v4: 3-9890862-C-G
• MyVariant Identifiers: chr3:g.9932546C>G (hg19) ; chr3:g.9890862C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.9890862C>G , CM000665.2:g.9890862C>G	GRCh38
NC_000003.11:g.9932546C>G , CM000665.1:g.9932546C>G	GRCh37
NC_000003.10:g.9907546C>G	NCBI36
NG_041779.1:g.5276C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000489724.2:c.89+51C>G	ENSP00000497724.1:n.89+51C>G
ENST00000647897.1:c.89+51C>G MANE Select	ENSP00000496942.1:n.89+51C>G
ENST00000307768.4:c.89+51C>G	ENSP00000306106.4:n.89+51C>G
ENST00000489724.1:n.179+51C>G
ENST00000616966.2:c.89+51C>G	ENSP00000481606.1:n.89+51C>G
NM_032492.3:c.89+51C>G	NP_115881.3:n.89+51C>G
NM_001363890.1:c.-180+51C>G	NP_001350819.1:n.-180+51C>G
NM_032492.4:c.89+51C>G MANE Select	NP_115881.3:n.89+51C>G