Canonical Allele Identifier: CA9765038

Gene: JAG1

Linked Data

• ClinVar Variation Id: 234530
• ClinVar RCV Id: RCV000213865 ; RCV001369966 ; RCV002444870 ; RCV002485440
• dbSNP Id: rs768317581
• ExAC: 20:10633142 T / C
• gnomAD v2: 20-10633142-T-C
• gnomAD v3: 20-10652494-T-C
• gnomAD v4: 20-10652494-T-C
• MyVariant Identifiers: chr20:g.10633142T>C (hg19) ; chr20:g.10652494T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.10652494T>C , CM000682.2:g.10652494T>C	GRCh38
NC_000020.10:g.10633142T>C , CM000682.1:g.10633142T>C	GRCh37
NC_000020.9:g.10581142T>C	NCBI36
NG_007496.1:g.26553A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000254958.10:c.860A>G MANE Select	ENSP00000254958.4:p.Asn287Ser
ENST00000617965.2:n.229A>G
ENST00000254958.9:c.860A>G	ENSP00000254958.4:p.Asn287Ser
ENST00000423891.6:n.726A>G
ENST00000617965.1:n.229A>G
NM_000214.2:c.860A>G	NP_000205.1:p.Asn287Ser
NM_000214.3:c.860A>G MANE Select	NP_000205.1:p.Asn287Ser