Canonical Allele Identifier: CA9764544

Gene: JAG1

Linked Data

• dbSNP Id: rs747656701
• ExAC: 20:10625489 T / C
• gnomAD v2: 20-10625489-T-C
• gnomAD v3: 20-10644841-T-C
• gnomAD v4: 20-10644841-T-C
• MyVariant Identifiers: chr20:g.10625489T>C (hg19) ; chr20:g.10644841T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.10644841T>C , CM000682.2:g.10644841T>C	GRCh38
NC_000020.10:g.10625489T>C , CM000682.1:g.10625489T>C	GRCh37
NC_000020.9:g.10573489T>C	NCBI36
NG_007496.1:g.34206A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000254958.10:c.2344+22A>G MANE Select	ENSP00000254958.4:n.2344+22A>G
ENST00000617965.2:n.2933+22A>G
ENST00000254958.9:c.2344+22A>G	ENSP00000254958.4:n.2344+22A>G
ENST00000423891.6:n.2210+22A>G
ENST00000488480.2:n.763A>G
NM_000214.2:c.2344+22A>G	NP_000205.1:n.2344+22A>G
NM_000214.3:c.2344+22A>G MANE Select	NP_000205.1:n.2344+22A>G