Canonical Allele Identifier: CA2651918046
Gene: JAG1 HGNC NCBI

Linked Data

gnomAD v4: 20-10658824-T-G
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.10658824T>G , CM000682.2:g.10658824T>G GRCh38
NC_000020.10:g.10639472T>G , CM000682.1:g.10639472T>G GRCh37
NC_000020.9:g.10587472T>G NCBI36
NG_007496.1:g.20223A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000254958.10:c.440-102A>C MANE Select ENSP00000254958.4:n.440-102A>C
ENST00000254958.9:c.440-102A>C ENSP00000254958.4:n.440-102A>C
ENST00000423891.6:n.306-102A>C
NM_000214.2:c.440-102A>C NP_000205.1:n.440-102A>C
NM_000214.3:c.440-102A>C MANE Select NP_000205.1:n.440-102A>C
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