Canonical Allele Identifier: CA634452153
Gene: JAG1 HGNC NCBI

Linked Data

dbSNP Id: rs1306656160
gnomAD v2: 20-10625344-T-G
gnomAD v3: 20-10644696-T-G
gnomAD v4: 20-10644696-T-G
MyVariant Identifiers: chr20:g.10625344T>G (hg19) chr20:g.10644696T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.10644696T>G , CM000682.2:g.10644696T>G GRCh38
NC_000020.10:g.10625344T>G , CM000682.1:g.10625344T>G GRCh37
NC_000020.9:g.10573344T>G NCBI36
NG_007496.1:g.34351A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000254958.10:c.2344+167A>C MANE Select ENSP00000254958.4:n.2344+167A>C
ENST00000617965.2:n.2933+167A>C
ENST00000254958.9:c.2344+167A>C ENSP00000254958.4:n.2344+167A>C
ENST00000423891.6:n.2210+167A>C
ENST00000488480.2:n.908A>C
NM_000214.2:c.2344+167A>C NP_000205.1:n.2344+167A>C
NM_000214.3:c.2344+167A>C MANE Select NP_000205.1:n.2344+167A>C
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