Canonical Allele Identifier: CA242623

Gene: JAG1

Linked Data

• ClinVar Variation Id: 195926
• ClinVar RCV Id: RCV000176613 ; RCV002516710
• dbSNP Id: rs781429347
• ExAC: 20:10620495 G / A
• gnomAD v2: 20-10620495-G-A
• gnomAD v3: 20-10639847-G-A
• gnomAD v4: 20-10639847-G-A
• MyVariant Identifiers: chr20:g.10620495G>A (hg19) ; chr20:g.10639847G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.10639847G>A , CM000682.2:g.10639847G>A	GRCh38
NC_000020.10:g.10620495G>A , CM000682.1:g.10620495G>A	GRCh37
NC_000020.9:g.10568495G>A	NCBI36
NG_007496.1:g.39200C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000254958.10:c.3308C>T MANE Select	ENSP00000254958.4:p.Thr1103Ile
ENST00000254958.9:c.3308C>T	ENSP00000254958.4:p.Thr1103Ile
ENST00000423891.6:n.3174C>T
NM_000214.2:c.3308C>T	NP_000205.1:p.Thr1103Ile
NM_000214.3:c.3308C>T MANE Select	NP_000205.1:p.Thr1103Ile