Canonical Allele Identifier: CA540882755
Gene: JAGN1 HGNC NCBI

Linked Data

dbSNP Id: rs1002345174
gnomAD v2: 3-9932524-C-A
gnomAD v3: 3-9890840-C-A
gnomAD v4: 3-9890840-C-A
MyVariant Identifiers: chr3:g.9932524C>A (hg19) chr3:g.9890840C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.9890840C>A , CM000665.2:g.9890840C>A GRCh38
NC_000003.11:g.9932524C>A , CM000665.1:g.9932524C>A GRCh37
NC_000003.10:g.9907524C>A NCBI36
NG_041779.1:g.5254C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000489724.2:c.89+29C>A ENSP00000497724.1:n.89+29C>A
ENST00000647897.1:c.89+29C>A MANE Select ENSP00000496942.1:n.89+29C>A
ENST00000307768.4:c.89+29C>A ENSP00000306106.4:n.89+29C>A
ENST00000489724.1:n.179+29C>A
ENST00000616966.2:c.89+29C>A ENSP00000481606.1:n.89+29C>A
NM_032492.3:c.89+29C>A NP_115881.3:n.89+29C>A
NM_001363890.1:c.-180+29C>A NP_001350819.1:n.-180+29C>A
NM_032492.4:c.89+29C>A MANE Select NP_115881.3:n.89+29C>A
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