Canonical Allele Identifier: CA408234862
Gene: JAG1 HGNC NCBI

Linked Data

gnomAD v4: 20-10644875-T-C
MyVariant Identifiers: chr20:g.10625523T>C (hg19) chr20:g.10644875T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.10644875T>C , CM000682.2:g.10644875T>C GRCh38
NC_000020.10:g.10625523T>C , CM000682.1:g.10625523T>C GRCh37
NC_000020.9:g.10573523T>C NCBI36
NG_007496.1:g.34172A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000254958.10:c.2332A>G MANE Select ENSP00000254958.4:p.Ile778Val
ENST00000617965.2:n.2921A>G
ENST00000254958.9:c.2332A>G ENSP00000254958.4:p.Ile778Val
ENST00000423891.6:n.2198A>G
ENST00000488480.2:n.729A>G
NM_000214.2:c.2332A>G NP_000205.1:p.Ile778Val
NM_000214.3:c.2332A>G MANE Select NP_000205.1:p.Ile778Val
Search 100 bp 5'
Search 100 bp 3'