Canonical Allele Identifier: CA9765122

Gene: JAG1

Linked Data

• ClinVar Variation Id: 1462355
• ClinVar RCV Id: RCV001968434 ; RCV002331540
• dbSNP Id: rs555794483
• ExAC: 20:10639336 C / T
• gnomAD v2: 20-10639336-C-T
• gnomAD v3: 20-10658688-C-T
• gnomAD v4: 20-10658688-C-T
• MyVariant Identifiers: chr20:g.10639336C>T (hg19) ; chr20:g.10658688C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.10658688C>T , CM000682.2:g.10658688C>T	GRCh38
NC_000020.10:g.10639336C>T , CM000682.1:g.10639336C>T	GRCh37
NC_000020.9:g.10587336C>T	NCBI36
NG_007496.1:g.20359G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000254958.10:c.474G>A MANE Select	ENSP00000254958.4:p.Ser158=
ENST00000254958.9:c.474G>A	ENSP00000254958.4:p.Ser158=
ENST00000423891.6:n.340G>A
NM_000214.2:c.474G>A	NP_000205.1:p.Ser158=
NM_000214.3:c.474G>A MANE Select	NP_000205.1:p.Ser158=