Canonical Allele Identifier: CA9764991

Gene: JAG1

Linked Data

• ClinVar Variation Id: 255544
• ClinVar RCV Id: RCV000252476 ; RCV001520812 ; RCV002494700
• dbSNP Id: rs201709907
• ExAC: 20:10632358 T / C
• gnomAD v2: 20-10632358-T-C
• gnomAD v3: 20-10651710-T-C
• gnomAD v4: 20-10651710-T-C
• MyVariant Identifiers: chr20:g.10632358T>C (hg19) ; chr20:g.10651710T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.10651710T>C , CM000682.2:g.10651710T>C	GRCh38
NC_000020.10:g.10632358T>C , CM000682.1:g.10632358T>C	GRCh37
NC_000020.9:g.10580358T>C	NCBI36
NG_007496.1:g.27337A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000254958.10:c.1007-16A>G MANE Select	ENSP00000254958.4:n.1007-16A>G
ENST00000617965.2:n.376-16A>G
ENST00000254958.9:c.1007-16A>G	ENSP00000254958.4:n.1007-16A>G
ENST00000423891.6:n.873-16A>G
ENST00000617965.1:n.376-16A>G
NM_000214.2:c.1007-16A>G	NP_000205.1:n.1007-16A>G
NM_000214.3:c.1007-16A>G MANE Select	NP_000205.1:n.1007-16A>G