Canonical Allele Identifier: CA9764394

Gene: JAG1

Linked Data

• ClinVar Variation Id: 288350
• ClinVar RCV Id: RCV000313708 ; RCV001089190 ; RCV002436121 ; RCV004549606
• dbSNP Id: rs746664646
• ExAC: 20:10622243 G / A
• gnomAD v2: 20-10622243-G-A
• gnomAD v3: 20-10641595-G-A
• gnomAD v4: 20-10641595-G-A
• MyVariant Identifiers: chr20:g.10622243G>A (hg19) ; chr20:g.10641595G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.10641595G>A , CM000682.2:g.10641595G>A	GRCh38
NC_000020.10:g.10622243G>A , CM000682.1:g.10622243G>A	GRCh37
NC_000020.9:g.10570243G>A	NCBI36
NG_007496.1:g.37452C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000254958.10:c.2781C>T MANE Select	ENSP00000254958.4:p.Val927=
ENST00000617965.2:n.3370C>T
ENST00000254958.9:c.2781C>T	ENSP00000254958.4:p.Val927=
ENST00000423891.6:n.2647C>T
NM_000214.2:c.2781C>T	NP_000205.1:p.Val927=
NM_000214.3:c.2781C>T MANE Select	NP_000205.1:p.Val927=