Canonical Allele Identifier: CA509662078
Gene: JAG1 HGNC NCBI

Linked Data

dbSNP Id: rs1600187845
gnomAD v3: 20-10656418-G-A
gnomAD v4: 20-10656418-G-A
MyVariant Identifiers: chr20:g.10637066G>A (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.10656418G>A , CM000682.2:g.10656418G>A GRCh38
NC_000020.10:g.10637066G>A , CM000682.1:g.10637066G>A GRCh37
NC_000020.9:g.10585066G>A NCBI36
NG_007496.1:g.22629C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000254958.10:c.735C>T MANE Select ENSP00000254958.4:p.Cys245=
ENST00000254958.9:c.735C>T ENSP00000254958.4:p.Cys245=
ENST00000423891.6:n.601C>T
NM_000214.2:c.735C>T NP_000205.1:p.Cys245=
NM_000214.3:c.735C>T MANE Select NP_000205.1:p.Cys245=
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Search 100 bp 3'