Canonical Allele Identifier: CA9764558

Gene: JAG1

Linked Data

• ClinVar Variation Id: 234698
• ClinVar RCV Id: RCV000223517 ; RCV001322306 ; RCV002485443
• dbSNP Id: rs149949294
• ExAC: 20:10625543 T / C
• gnomAD v2: 20-10625543-T-C
• gnomAD v3: 20-10644895-T-C
• gnomAD v4: 20-10644895-T-C
• MyVariant Identifiers: chr20:g.10625543T>C (hg19) ; chr20:g.10644895T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.10644895T>C , CM000682.2:g.10644895T>C	GRCh38
NC_000020.10:g.10625543T>C , CM000682.1:g.10625543T>C	GRCh37
NC_000020.9:g.10573543T>C	NCBI36
NG_007496.1:g.34152A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000254958.10:c.2312A>G MANE Select	ENSP00000254958.4:p.Lys771Arg
ENST00000617965.2:n.2901A>G
ENST00000254958.9:c.2312A>G	ENSP00000254958.4:p.Lys771Arg
ENST00000423891.6:n.2178A>G
ENST00000488480.2:n.709A>G
NM_000214.2:c.2312A>G	NP_000205.1:p.Lys771Arg
NM_000214.3:c.2312A>G MANE Select	NP_000205.1:p.Lys771Arg