Canonical Allele Identifier: CA9765218

Gene: JAG1

Linked Data

• ClinVar Variation Id: 418263
• ClinVar RCV Id: RCV000731757 ; RCV001425112 ; RCV002431387 ; RCV004551579
• dbSNP Id: rs142855305
• ExAC: 20:10653654 C / G
• gnomAD v2: 20-10653654-C-G
• gnomAD v3: 20-10673006-C-G
• gnomAD v4: 20-10673006-C-G
• MyVariant Identifiers: chr20:g.10653654C>G (hg19) ; chr20:g.10673006C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.10673006C>G , CM000682.2:g.10673006C>G	GRCh38
NC_000020.10:g.10653654C>G , CM000682.1:g.10653654C>G	GRCh37
NC_000020.9:g.10601654C>G	NCBI36
NG_007496.1:g.6041G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000254958.10:c.82G>C MANE Select	ENSP00000254958.4:p.Val28Leu
ENST00000254958.9:c.82G>C	ENSP00000254958.4:p.Val28Leu
NM_000214.2:c.82G>C	NP_000205.1:p.Val28Leu
NM_000214.3:c.82G>C MANE Select	NP_000205.1:p.Val28Leu