Canonical Allele Identifier: CA2651918014
Gene: JAG1 HGNC NCBI

Linked Data

gnomAD v4: 20-10658729-A-G
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.10658729A>G , CM000682.2:g.10658729A>G GRCh38
NC_000020.10:g.10639377A>G , CM000682.1:g.10639377A>G GRCh37
NC_000020.9:g.10587377A>G NCBI36
NG_007496.1:g.20318T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000254958.10:c.440-7T>C MANE Select ENSP00000254958.4:n.440-7T>C
ENST00000254958.9:c.440-7T>C ENSP00000254958.4:n.440-7T>C
ENST00000423891.6:n.306-7T>C
NM_000214.2:c.440-7T>C NP_000205.1:n.440-7T>C
NM_000214.3:c.440-7T>C MANE Select NP_000205.1:n.440-7T>C
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