Canonical Allele Identifier: CA254222

Gene: JAG1

Linked Data

• ClinVar Variation Id: 7619
• ClinVar RCV Id: RCV000008058 ; RCV000729764
• dbSNP Id: rs121918350
• gnomAD v4: 20-10658612-G-A
• MyVariant Identifiers: chr20:g.10639260G>A (hg19) ; chr20:g.10658612G>A (hg38)
• PubMed: PMID:9585603

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.10658612G>A , CM000682.2:g.10658612G>A	GRCh38
NC_000020.10:g.10639260G>A , CM000682.1:g.10639260G>A	GRCh37
NC_000020.9:g.10587260G>A	NCBI36
NG_007496.1:g.20435C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000254958.10:c.550C>T MANE Select	ENSP00000254958.4:p.Arg184Cys
ENST00000254958.9:c.550C>T	ENSP00000254958.4:p.Arg184Cys
ENST00000423891.6:n.416C>T
NM_000214.2:c.550C>T	NP_000205.1:p.Arg184Cys
NM_000214.3:c.550C>T MANE Select	NP_000205.1:p.Arg184Cys