Canonical Allele Identifier: CA9764557

Gene: JAG1

Linked Data

• ClinVar Variation Id: 289185
• ClinVar RCV Id: RCV000369805 ; RCV000366468 ; RCV000726296 ; RCV001083154
• dbSNP Id: rs202063628
• ExAC: 20:10625526 G / A
• gnomAD v2: 20-10625526-G-A
• gnomAD v3: 20-10644878-G-A
• gnomAD v4: 20-10644878-G-A
• MyVariant Identifiers: chr20:g.10625526G>A (hg19) ; chr20:g.10644878G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.10644878G>A , CM000682.2:g.10644878G>A	GRCh38
NC_000020.10:g.10625526G>A , CM000682.1:g.10625526G>A	GRCh37
NC_000020.9:g.10573526G>A	NCBI36
NG_007496.1:g.34169C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000254958.10:c.2329C>T MANE Select	ENSP00000254958.4:p.Pro777Ser
ENST00000617965.2:n.2918C>T
ENST00000254958.9:c.2329C>T	ENSP00000254958.4:p.Pro777Ser
ENST00000423891.6:n.2195C>T
ENST00000488480.2:n.726C>T
NM_000214.2:c.2329C>T	NP_000205.1:p.Pro777Ser
NM_000214.3:c.2329C>T MANE Select	NP_000205.1:p.Pro777Ser