Canonical Allele Identifier: CA270004

Gene: JAG1

Linked Data

• ClinVar Variation Id: 143062
• ClinVar RCV Id: RCV000132568 ; RCV000597619 ; RCV001138646 ; RCV002498649
• dbSNP Id: rs527236046
• ExAC: 20:10629255 T / C
• gnomAD v2: 20-10629255-T-C
• gnomAD v3: 20-10648607-T-C
• gnomAD v4: 20-10648607-T-C
• MyVariant Identifiers: chr20:g.10629255T>C (hg19) ; chr20:g.10648607T>C (hg38)
• PubMed: PMID:16575836

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.10648607T>C , CM000682.2:g.10648607T>C	GRCh38
NC_000020.10:g.10629255T>C , CM000682.1:g.10629255T>C	GRCh37
NC_000020.9:g.10577255T>C	NCBI36
NG_007496.1:g.30440A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000254958.10:c.1511A>G MANE Select	ENSP00000254958.4:p.Asn504Ser
ENST00000617965.2:n.2100A>G
ENST00000254958.9:c.1511A>G	ENSP00000254958.4:p.Asn504Ser
ENST00000423891.6:n.1377A>G
ENST00000620743.1:n.568A>G
ENST00000622545.1:c.242A>G
NM_000214.2:c.1511A>G	NP_000205.1:p.Asn504Ser
NM_000214.3:c.1511A>G MANE Select	NP_000205.1:p.Asn504Ser