Canonical Allele Identifier: CA9765143

Gene: JAG1

Linked Data

• ClinVar Variation Id: 255560
• ClinVar RCV Id: RCV000248622 ; RCV002055029 ; RCV002356341 ; RCV002494701
• dbSNP Id: rs140511204
• ExAC: 20:10644650 A / G
• gnomAD v2: 20-10644650-A-G
• gnomAD v3: 20-10664002-A-G
• gnomAD v4: 20-10664002-A-G
• MyVariant Identifiers: chr20:g.10644650A>G (hg19) ; chr20:g.10664002A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.10664002A>G , CM000682.2:g.10664002A>G	GRCh38
NC_000020.10:g.10644650A>G , CM000682.1:g.10644650A>G	GRCh37
NC_000020.9:g.10592650A>G	NCBI36
NG_007496.1:g.15045T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000254958.10:c.400T>C MANE Select	ENSP00000254958.4:p.Leu134=
ENST00000254958.9:c.400T>C	ENSP00000254958.4:p.Leu134=
NM_000214.2:c.400T>C	NP_000205.1:p.Leu134=
NM_000214.3:c.400T>C MANE Select	NP_000205.1:p.Leu134=