Canonical Allele Identifier: CA408240030
Gene: JAG1 HGNC NCBI

Linked Data

ClinVar Variation Id: 468661
ClinVar RCV Id: RCV000553685
dbSNP Id: rs1555829660
MyVariant Identifiers: chr20:g.10639176A>G (hg19) chr20:g.10658528A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.10658528A>G , CM000682.2:g.10658528A>G GRCh38
NC_000020.10:g.10639176A>G , CM000682.1:g.10639176A>G GRCh37
NC_000020.9:g.10587176A>G NCBI36
NG_007496.1:g.20519T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000254958.10:c.634T>C MANE Select ENSP00000254958.4:p.Cys212Arg
ENST00000254958.9:c.634T>C ENSP00000254958.4:p.Cys212Arg
ENST00000423891.6:n.500T>C
NM_000214.2:c.634T>C NP_000205.1:p.Cys212Arg
NM_000214.3:c.634T>C MANE Select NP_000205.1:p.Cys212Arg
Search 100 bp 5'
Search 100 bp 3'