Canonical Allele Identifier: CA311345120
Gene: JAG1 HGNC NCBI

Linked Data

dbSNP Id: rs548974757
gnomAD v2: 20-10625412-C-T
gnomAD v3: 20-10644764-C-T
gnomAD v4: 20-10644764-C-T
MyVariant Identifiers: chr20:g.10625412C>T (hg19) chr20:g.10644764C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.10644764C>T , CM000682.2:g.10644764C>T GRCh38
NC_000020.10:g.10625412C>T , CM000682.1:g.10625412C>T GRCh37
NC_000020.9:g.10573412C>T NCBI36
NG_007496.1:g.34283G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000254958.10:c.2344+99G>A MANE Select ENSP00000254958.4:n.2344+99G>A
ENST00000617965.2:n.2933+99G>A
ENST00000254958.9:c.2344+99G>A ENSP00000254958.4:n.2344+99G>A
ENST00000423891.6:n.2210+99G>A
ENST00000488480.2:n.840G>A
NM_000214.2:c.2344+99G>A NP_000205.1:n.2344+99G>A
NM_000214.3:c.2344+99G>A MANE Select NP_000205.1:n.2344+99G>A
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