Canonical Allele Identifier: CA9765045

Gene: JAG1

Linked Data

• ClinVar Variation Id: 734748
• ClinVar RCV Id: RCV000910203 ; RCV003363001
• dbSNP Id: rs753646278
• ExAC: 20:10633195 C / G
• gnomAD v4: 20-10652547-C-G
• MyVariant Identifiers: chr20:g.10633195C>G (hg19) ; chr20:g.10652547C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.10652547C>G , CM000682.2:g.10652547C>G	GRCh38
NC_000020.10:g.10633195C>G , CM000682.1:g.10633195C>G	GRCh37
NC_000020.9:g.10581195C>G	NCBI36
NG_007496.1:g.26500G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000254958.10:c.807G>C MANE Select	ENSP00000254958.4:p.Pro269=
ENST00000617965.2:n.176G>C
ENST00000254958.9:c.807G>C	ENSP00000254958.4:p.Pro269=
ENST00000423891.6:n.673G>C
ENST00000617965.1:n.176G>C
NM_000214.2:c.807G>C	NP_000205.1:p.Pro269=
NM_000214.3:c.807G>C MANE Select	NP_000205.1:p.Pro269=