Canonical Allele Identifier: CA9764562

Gene: JAG1

Linked Data

• ClinVar Variation Id: 337751
• ClinVar RCV Id: RCV000357300 ; RCV000730538 ; RCV000618450 ; RCV000645019 ; RCV002487494
• dbSNP Id: rs140330283
• ExAC: 20:10625555 G / A
• gnomAD v2: 20-10625555-G-A
• gnomAD v3: 20-10644907-G-A
• gnomAD v4: 20-10644907-G-A
• MyVariant Identifiers: chr20:g.10625555G>A (hg19) ; chr20:g.10644907G>A (hg38)
• PubMed: PMID:21752016

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.10644907G>A , CM000682.2:g.10644907G>A	GRCh38
NC_000020.10:g.10625555G>A , CM000682.1:g.10625555G>A	GRCh37
NC_000020.9:g.10573555G>A	NCBI36
NG_007496.1:g.34140C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000254958.10:c.2300C>T MANE Select	ENSP00000254958.4:p.Thr767Met
ENST00000617965.2:n.2889C>T
ENST00000254958.9:c.2300C>T	ENSP00000254958.4:p.Thr767Met
ENST00000423891.6:n.2166C>T
ENST00000488480.2:n.697C>T
NM_000214.2:c.2300C>T	NP_000205.1:p.Thr767Met
NM_000214.3:c.2300C>T MANE Select	NP_000205.1:p.Thr767Met