Canonical Allele Identifier: CA408238361
Gene: JAG1 HGNC NCBI

Linked Data

gnomAD v4: 20-10650247-C-T
MyVariant Identifiers: chr20:g.10630895C>T (hg19) chr20:g.10650247C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.10650247C>T , CM000682.2:g.10650247C>T GRCh38
NC_000020.10:g.10630895C>T , CM000682.1:g.10630895C>T GRCh37
NC_000020.9:g.10578895C>T NCBI36
NG_007496.1:g.28800G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000254958.10:c.1234G>A MANE Select ENSP00000254958.4:p.Asp412Asn
ENST00000617965.2:n.1823G>A
ENST00000254958.9:c.1234G>A ENSP00000254958.4:p.Asp412Asn
ENST00000423891.6:n.1100G>A
ENST00000622545.1:c.11G>A
NM_000214.2:c.1234G>A NP_000205.1:p.Asp412Asn
NM_000214.3:c.1234G>A MANE Select NP_000205.1:p.Asp412Asn
Search 100 bp 5'
Search 100 bp 3'