Canonical Allele Identifier: CA311345071
Gene: JAG1 HGNC NCBI

Linked Data

dbSNP Id: rs540408295
gnomAD v3: 20-10644670-G-C
gnomAD v4: 20-10644670-G-C
MyVariant Identifiers: chr20:g.10625318G>C (hg19) chr20:g.10644670G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.10644670G>C , CM000682.2:g.10644670G>C GRCh38
NC_000020.10:g.10625318G>C , CM000682.1:g.10625318G>C GRCh37
NC_000020.9:g.10573318G>C NCBI36
NG_007496.1:g.34377C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000254958.10:c.2344+193C>G MANE Select ENSP00000254958.4:n.2344+193C>G
ENST00000617965.2:n.2933+193C>G
ENST00000254958.9:c.2344+193C>G ENSP00000254958.4:n.2344+193C>G
ENST00000423891.6:n.2210+193C>G
ENST00000488480.2:n.934C>G
NM_000214.2:c.2344+193C>G NP_000205.1:n.2344+193C>G
NM_000214.3:c.2344+193C>G MANE Select NP_000205.1:n.2344+193C>G
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