Canonical Allele Identifier: CA9764437

Gene: JAG1

Linked Data

• ClinVar Variation Id: 291190
• ClinVar RCV Id: RCV000294579 ; RCV002429240 ; RCV002518165
• dbSNP Id: rs138189639
• ExAC: 20:10622509 A / G
• gnomAD v2: 20-10622509-A-G
• gnomAD v3: 20-10641861-A-G
• gnomAD v4: 20-10641861-A-G
• MyVariant Identifiers: chr20:g.10622509A>G (hg19) ; chr20:g.10641861A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.10641861A>G , CM000682.2:g.10641861A>G	GRCh38
NC_000020.10:g.10622509A>G , CM000682.1:g.10622509A>G	GRCh37
NC_000020.9:g.10570509A>G	NCBI36
NG_007496.1:g.37186T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000254958.10:c.2604T>C MANE Select	ENSP00000254958.4:p.Ser868=
ENST00000617965.2:n.3193T>C
ENST00000254958.9:c.2604T>C	ENSP00000254958.4:p.Ser868=
ENST00000423891.6:n.2470T>C
NM_000214.2:c.2604T>C	NP_000205.1:p.Ser868=
NM_000214.3:c.2604T>C MANE Select	NP_000205.1:p.Ser868=