Canonical Allele Identifier: CA2651914378
Gene: JAG1 HGNC NCBI

Linked Data

gnomAD v4: 20-10644615-A-G
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.10644615A>G , CM000682.2:g.10644615A>G GRCh38
NC_000020.10:g.10625263A>G , CM000682.1:g.10625263A>G GRCh37
NC_000020.9:g.10573263A>G NCBI36
NG_007496.1:g.34432T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000254958.10:c.2345-231T>C MANE Select ENSP00000254958.4:n.2345-231T>C
ENST00000617965.2:n.2934-231T>C
ENST00000254958.9:c.2345-231T>C ENSP00000254958.4:n.2345-231T>C
ENST00000423891.6:n.2211-231T>C
ENST00000488480.2:n.989T>C
NM_000214.2:c.2345-231T>C NP_000205.1:n.2345-231T>C
NM_000214.3:c.2345-231T>C MANE Select NP_000205.1:n.2345-231T>C
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