Canonical Allele Identifier: CA1015374631
Gene: JAG1 HGNC NCBI

Linked Data

dbSNP Id: rs2067296072
gnomAD v3: 20-10644774-C-T
gnomAD v4: 20-10644774-C-T
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.10644774C>T , CM000682.2:g.10644774C>T GRCh38
NC_000020.10:g.10625422C>T , CM000682.1:g.10625422C>T GRCh37
NC_000020.9:g.10573422C>T NCBI36
NG_007496.1:g.34273G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000254958.10:c.2344+89G>A MANE Select ENSP00000254958.4:n.2344+89G>A
ENST00000617965.2:n.2933+89G>A
ENST00000254958.9:c.2344+89G>A ENSP00000254958.4:n.2344+89G>A
ENST00000423891.6:n.2210+89G>A
ENST00000488480.2:n.830G>A
NM_000214.2:c.2344+89G>A NP_000205.1:n.2344+89G>A
NM_000214.3:c.2344+89G>A MANE Select NP_000205.1:n.2344+89G>A
Search 100 bp 5'
Search 100 bp 3'