Canonical Allele Identifier: CA2589844006
Gene: JAG1 HGNC NCBI

Linked Data

dbSNP Id: rs1329289976
gnomAD v3: 20-10673731-G-A
gnomAD v4: 20-10673731-G-A
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.10673731G>A , CM000682.2:g.10673731G>A GRCh38
NC_000020.10:g.10654379G>A , CM000682.1:g.10654379G>A GRCh37
NC_000020.9:g.10602379G>A NCBI36
NG_007496.1:g.5316C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000254958.10:c.-201C>T MANE Select ENSP00000254958.4:n.-201C>T
ENST00000254958.9:c.-201C>T ENSP00000254958.4:n.-201C>T
NM_000214.2:c.-201C>T NP_000205.1:n.-201C>T
NM_000214.3:c.-201C>T MANE Select NP_000205.1:n.-201C>T
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