Canonical Allele Identifier: CA9764563

Gene: JAG1

Linked Data

• ClinVar Variation Id: 290897
• ClinVar RCV Id: RCV000324880 ; RCV002059305 ; RCV004021313 ; RCV004549626
• dbSNP Id: rs771544217
• ExAC: 20:10625557 A / G
• gnomAD v2: 20-10625557-A-G
• gnomAD v3: 20-10644909-A-G
• gnomAD v4: 20-10644909-A-G
• MyVariant Identifiers: chr20:g.10625557A>G (hg19) ; chr20:g.10644909A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.10644909A>G , CM000682.2:g.10644909A>G	GRCh38
NC_000020.10:g.10625557A>G , CM000682.1:g.10625557A>G	GRCh37
NC_000020.9:g.10573557A>G	NCBI36
NG_007496.1:g.34138T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000254958.10:c.2298T>C MANE Select	ENSP00000254958.4:p.Phe766=
ENST00000617965.2:n.2887T>C
ENST00000254958.9:c.2298T>C	ENSP00000254958.4:p.Phe766=
ENST00000423891.6:n.2164T>C
ENST00000488480.2:n.695T>C
NM_000214.2:c.2298T>C	NP_000205.1:p.Phe766=
NM_000214.3:c.2298T>C MANE Select	NP_000205.1:p.Phe766=