Canonical Allele Identifier: CA1344965557

Gene: JAGN1

Linked Data

• ClinVar Variation Id: 1978329
• ClinVar RCV Id: RCV002741782
• dbSNP Id: rs1165507991
• gnomAD v4: 3-9890826-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.9890826G>T , CM000665.2:g.9890826G>T	GRCh38
NC_000003.11:g.9932510G>T , CM000665.1:g.9932510G>T	GRCh37
NC_000003.10:g.9907510G>T	NCBI36
NG_041779.1:g.5240G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000489724.2:c.89+15G>T	ENSP00000497724.1:n.89+15G>T
ENST00000647897.1:c.89+15G>T MANE Select	ENSP00000496942.1:n.89+15G>T
ENST00000307768.4:c.89+15G>T	ENSP00000306106.4:n.89+15G>T
ENST00000489724.1:n.179+15G>T
ENST00000616966.2:c.89+15G>T	ENSP00000481606.1:n.89+15G>T
NM_032492.3:c.89+15G>T	NP_115881.3:n.89+15G>T
NM_001363890.1:c.-180+15G>T	NP_001350819.1:n.-180+15G>T
NM_032492.4:c.89+15G>T MANE Select	NP_115881.3:n.89+15G>T