Canonical Allele Identifier: CA408239989
Gene: JAG1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2954580
ClinVar RCV Id: RCV003815779
gnomAD v4: 20-10658512-T-C
MyVariant Identifiers: chr20:g.10639160T>C (hg19) chr20:g.10658512T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.10658512T>C , CM000682.2:g.10658512T>C GRCh38
NC_000020.10:g.10639160T>C , CM000682.1:g.10639160T>C GRCh37
NC_000020.9:g.10587160T>C NCBI36
NG_007496.1:g.20535A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000254958.10:c.650A>G MANE Select ENSP00000254958.4:p.Asn217Ser
ENST00000254958.9:c.650A>G ENSP00000254958.4:p.Asn217Ser
ENST00000423891.6:n.516A>G
NM_000214.2:c.650A>G NP_000205.1:p.Asn217Ser
NM_000214.3:c.650A>G MANE Select NP_000205.1:p.Asn217Ser
Search 100 bp 5'
Search 100 bp 3'