Canonical Allele Identifier: CA432386387
Gene: JAGN1 HGNC NCBI

Linked Data

dbSNP Id: rs1352926506
gnomAD v2: 3-9932472-C-T
gnomAD v4: 3-9890788-C-T
MyVariant Identifiers: chr3:g.9932472C>T (hg19) chr3:g.9890788C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.9890788C>T , CM000665.2:g.9890788C>T GRCh38
NC_000003.11:g.9932472C>T , CM000665.1:g.9932472C>T GRCh37
NC_000003.10:g.9907472C>T NCBI36
NG_041779.1:g.5202C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000489724.2:c.66C>T ENSP00000497724.1:p.Arg22=
ENST00000647897.1:c.66C>T MANE Select ENSP00000496942.1:p.Arg22=
ENST00000307768.4:c.66C>T ENSP00000306106.4:p.Arg22=
ENST00000489724.1:n.156C>T
ENST00000616966.2:c.66C>T ENSP00000481606.1:p.Arg22=
NM_032492.3:c.66C>T NP_115881.3:p.Arg22=
NM_001363890.1:c.-203C>T NP_001350819.1:n.-203C>T
NM_032492.4:c.66C>T MANE Select NP_115881.3:p.Arg22=
Search 100 bp 5'
Search 100 bp 3'