Canonical Allele Identifier: CA351712259

Gene: JAGN1

Linked Data

• ClinVar Variation Id: 2081420
• ClinVar RCV Id: RCV002994274
• MyVariant Identifiers: chr3:g.9932496G>A (hg19) ; chr3:g.9890812G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.9890812G>A , CM000665.2:g.9890812G>A	GRCh38
NC_000003.11:g.9932496G>A , CM000665.1:g.9932496G>A	GRCh37
NC_000003.10:g.9907496G>A	NCBI36
NG_041779.1:g.5226G>A

Transcript Alleles

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