Canonical Allele Identifier: CA311345088
Gene: JAG1 HGNC NCBI

Linked Data

dbSNP Id: rs777494764
gnomAD v3: 20-10644689-G-A
gnomAD v4: 20-10644689-G-A
MyVariant Identifiers: chr20:g.10625337G>A (hg19) chr20:g.10644689G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.10644689G>A , CM000682.2:g.10644689G>A GRCh38
NC_000020.10:g.10625337G>A , CM000682.1:g.10625337G>A GRCh37
NC_000020.9:g.10573337G>A NCBI36
NG_007496.1:g.34358C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000254958.10:c.2344+174C>T MANE Select ENSP00000254958.4:n.2344+174C>T
ENST00000617965.2:n.2933+174C>T
ENST00000254958.9:c.2344+174C>T ENSP00000254958.4:n.2344+174C>T
ENST00000423891.6:n.2210+174C>T
ENST00000488480.2:n.915C>T
NM_000214.2:c.2344+174C>T NP_000205.1:n.2344+174C>T
NM_000214.3:c.2344+174C>T MANE Select NP_000205.1:n.2344+174C>T
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