Canonical Allele Identifier: CA408240000
Gene: JAG1 HGNC NCBI

Linked Data

dbSNP Id: rs1267587771
gnomAD v2: 20-10639165-A-C
gnomAD v4: 20-10658517-A-C
MyVariant Identifiers: chr20:g.10639165A>C (hg19) chr20:g.10658517A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.10658517A>C , CM000682.2:g.10658517A>C GRCh38
NC_000020.10:g.10639165A>C , CM000682.1:g.10639165A>C GRCh37
NC_000020.9:g.10587165A>C NCBI36
NG_007496.1:g.20530T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000254958.10:c.645T>G MANE Select ENSP00000254958.4:p.Asn215Lys
ENST00000254958.9:c.645T>G ENSP00000254958.4:p.Asn215Lys
ENST00000423891.6:n.511T>G
NM_000214.2:c.645T>G NP_000205.1:p.Asn215Lys
NM_000214.3:c.645T>G MANE Select NP_000205.1:p.Asn215Lys
Search 100 bp 5'
Search 100 bp 3'