Canonical Allele Identifier: CA9765195

Gene: JAG1

Linked Data

• ClinVar Variation Id: 290437
• ClinVar RCV Id: RCV000263328 ; RCV001457336 ; RCV004021302 ; RCV004549622
• dbSNP Id: rs565407240
• ExAC: 20:10653532 G / A
• gnomAD v2: 20-10653532-G-A
• gnomAD v3: 20-10672884-G-A
• gnomAD v4: 20-10672884-G-A
• MyVariant Identifiers: chr20:g.10653532G>A (hg19) ; chr20:g.10672884G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.10672884G>A , CM000682.2:g.10672884G>A	GRCh38
NC_000020.10:g.10653532G>A , CM000682.1:g.10653532G>A	GRCh37
NC_000020.9:g.10601532G>A	NCBI36
NG_007496.1:g.6163C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000254958.10:c.204C>T MANE Select	ENSP00000254958.4:p.Arg68=
ENST00000254958.9:c.204C>T	ENSP00000254958.4:p.Arg68=
NM_000214.2:c.204C>T	NP_000205.1:p.Arg68=
NM_000214.3:c.204C>T MANE Select	NP_000205.1:p.Arg68=