Canonical Allele Identifier: CA1015377468
Gene: JAG1 HGNC NCBI

Linked Data

dbSNP Id: rs763817834
gnomAD v3: 20-10659035-G-T
gnomAD v4: 20-10659035-G-T
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.10659035G>T , CM000682.2:g.10659035G>T GRCh38
NC_000020.10:g.10639683G>T , CM000682.1:g.10639683G>T GRCh37
NC_000020.9:g.10587683G>T NCBI36
NG_007496.1:g.20012C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000254958.10:c.440-313C>A MANE Select ENSP00000254958.4:n.440-313C>A
ENST00000254958.9:c.440-313C>A ENSP00000254958.4:n.440-313C>A
ENST00000423891.6:n.306-313C>A
NM_000214.2:c.440-313C>A NP_000205.1:n.440-313C>A
NM_000214.3:c.440-313C>A MANE Select NP_000205.1:n.440-313C>A
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