Canonical Allele Identifier: CA9764505

Gene: JAG1

Linked Data

• ClinVar Variation Id: 522881
• ClinVar RCV Id: RCV000626071 ; RCV000730482 ; RCV000755708
• dbSNP Id: rs769531968
• ExAC: 20:10624455 G / A
• gnomAD v2: 20-10624455-G-A
• gnomAD v3: 20-10643807-G-A
• gnomAD v4: 20-10643807-G-A
• MyVariant Identifiers: chr20:g.10624455G>A (hg19) ; chr20:g.10643807G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.10643807G>A , CM000682.2:g.10643807G>A	GRCh38
NC_000020.10:g.10624455G>A , CM000682.1:g.10624455G>A	GRCh37
NC_000020.9:g.10572455G>A	NCBI36
NG_007496.1:g.35240C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000254958.10:c.2429C>T MANE Select	ENSP00000254958.4:p.Pro810Leu
ENST00000617965.2:n.3018C>T
ENST00000254958.9:c.2429C>T	ENSP00000254958.4:p.Pro810Leu
ENST00000423891.6:n.2295C>T
NM_000214.2:c.2429C>T	NP_000205.1:p.Pro810Leu
NM_000214.3:c.2429C>T MANE Select	NP_000205.1:p.Pro810Leu