Canonical Allele Identifier: CA311357656
Gene: JAG1 HGNC NCBI

Linked Data

dbSNP Id: rs959548119
gnomAD v3: 20-10673773-G-T
gnomAD v4: 20-10673773-G-T
MyVariant Identifiers: chr20:g.10654421G>T (hg19) chr20:g.10673773G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.10673773G>T , CM000682.2:g.10673773G>T GRCh38
NC_000020.10:g.10654421G>T , CM000682.1:g.10654421G>T GRCh37
NC_000020.9:g.10602421G>T NCBI36
NG_007496.1:g.5274C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000254958.10:c.-243C>A MANE Select ENSP00000254958.4:n.-243C>A
ENST00000254958.9:c.-243C>A ENSP00000254958.4:n.-243C>A
NM_000214.2:c.-243C>A NP_000205.1:n.-243C>A
NM_000214.3:c.-243C>A MANE Select NP_000205.1:n.-243C>A
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