Canonical Allele Identifier: CA2651914631
Gene: JAG1 HGNC NCBI

Linked Data

gnomAD v4: 20-10645287-G-C
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.10645287G>C , CM000682.2:g.10645287G>C GRCh38
NC_000020.10:g.10625935G>C , CM000682.1:g.10625935G>C GRCh37
NC_000020.9:g.10573935G>C NCBI36
NG_007496.1:g.33760C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000254958.10:c.2114-31C>G MANE Select ENSP00000254958.4:n.2114-31C>G
ENST00000617965.2:n.2703-31C>G
ENST00000254958.9:c.2114-31C>G ENSP00000254958.4:n.2114-31C>G
ENST00000423891.6:n.1980-31C>G
ENST00000488480.2:n.511-31C>G
NM_000214.2:c.2114-31C>G NP_000205.1:n.2114-31C>G
NM_000214.3:c.2114-31C>G MANE Select NP_000205.1:n.2114-31C>G
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