Canonical Allele Identifier: CA1015388189
Gene: JAG1 HGNC NCBI

Linked Data

ClinVar Variation Id: 897825
ClinVar RCV Id: RCV001141324
dbSNP Id: rs1398348355
gnomAD v3: 20-10673715-C-G
gnomAD v4: 20-10673715-C-G
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.10673715C>G , CM000682.2:g.10673715C>G GRCh38
NC_000020.10:g.10654363C>G , CM000682.1:g.10654363C>G GRCh37
NC_000020.9:g.10602363C>G NCBI36
NG_007496.1:g.5332G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000254958.10:c.-185G>C MANE Select ENSP00000254958.4:n.-185G>C
ENST00000254958.9:c.-185G>C ENSP00000254958.4:n.-185G>C
NM_000214.2:c.-185G>C NP_000205.1:n.-185G>C
NM_000214.3:c.-185G>C MANE Select NP_000205.1:n.-185G>C
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