Canonical Allele Identifier: CA1015376305
Gene: JAG1 HGNC NCBI

Linked Data

dbSNP Id: rs2067378177
gnomAD v3: 20-10656240-T-C
gnomAD v4: 20-10656240-T-C
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.10656240T>C , CM000682.2:g.10656240T>C GRCh38
NC_000020.10:g.10636888T>C , CM000682.1:g.10636888T>C GRCh37
NC_000020.9:g.10584888T>C NCBI36
NG_007496.1:g.22807A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000254958.10:c.755+158A>G MANE Select ENSP00000254958.4:n.755+158A>G
ENST00000254958.9:c.755+158A>G ENSP00000254958.4:n.755+158A>G
ENST00000423891.6:n.621+158A>G
NM_000214.2:c.755+158A>G NP_000205.1:n.755+158A>G
NM_000214.3:c.755+158A>G MANE Select NP_000205.1:n.755+158A>G
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