Canonical Allele Identifier: CA9764552
Gene: JAG1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2714698
ClinVar RCV Id: RCV003510859
dbSNP Id: rs372877582
ExAC: 20:10625504 C / T
gnomAD v2: 20-10625504-C-T
gnomAD v4: 20-10644856-C-T
MyVariant Identifiers: chr20:g.10625504C>T (hg19) chr20:g.10644856C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.10644856C>T , CM000682.2:g.10644856C>T GRCh38
NC_000020.10:g.10625504C>T , CM000682.1:g.10625504C>T GRCh37
NC_000020.9:g.10573504C>T NCBI36
NG_007496.1:g.34191G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000254958.10:c.2344+7G>A MANE Select ENSP00000254958.4:n.2344+7G>A
ENST00000617965.2:n.2933+7G>A
ENST00000254958.9:c.2344+7G>A ENSP00000254958.4:n.2344+7G>A
ENST00000423891.6:n.2210+7G>A
ENST00000488480.2:n.748G>A
NM_000214.2:c.2344+7G>A NP_000205.1:n.2344+7G>A
NM_000214.3:c.2344+7G>A MANE Select NP_000205.1:n.2344+7G>A
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