Canonical Allele Identifier: CA311351622
Gene: JAG1 HGNC NCBI

Linked Data

dbSNP Id: rs977714229
gnomAD v2: 20-10639520-C-T
gnomAD v3: 20-10658872-C-T
gnomAD v4: 20-10658872-C-T
MyVariant Identifiers: chr20:g.10639520C>T (hg19) chr20:g.10658872C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.10658872C>T , CM000682.2:g.10658872C>T GRCh38
NC_000020.10:g.10639520C>T , CM000682.1:g.10639520C>T GRCh37
NC_000020.9:g.10587520C>T NCBI36
NG_007496.1:g.20175G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000254958.10:c.440-150G>A MANE Select ENSP00000254958.4:n.440-150G>A
ENST00000254958.9:c.440-150G>A ENSP00000254958.4:n.440-150G>A
ENST00000423891.6:n.306-150G>A
NM_000214.2:c.440-150G>A NP_000205.1:n.440-150G>A
NM_000214.3:c.440-150G>A MANE Select NP_000205.1:n.440-150G>A
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