Canonical Allele Identifier: CA9765027

Gene: JAG1

Linked Data

• dbSNP Id: rs752944693
• ExAC: 20:10633065 T / G
• gnomAD v2: 20-10633065-T-G
• gnomAD v4: 20-10652417-T-G
• MyVariant Identifiers: chr20:g.10633065T>G (hg19) ; chr20:g.10652417T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.10652417T>G , CM000682.2:g.10652417T>G	GRCh38
NC_000020.10:g.10633065T>G , CM000682.1:g.10633065T>G	GRCh37
NC_000020.9:g.10581065T>G	NCBI36
NG_007496.1:g.26630A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000254958.10:c.886+51A>C MANE Select	ENSP00000254958.4:n.886+51A>C
ENST00000617965.2:n.255+51A>C
ENST00000254958.9:c.886+51A>C	ENSP00000254958.4:n.886+51A>C
ENST00000423891.6:n.752+51A>C
ENST00000617965.1:n.255+51A>C
NM_000214.2:c.886+51A>C	NP_000205.1:n.886+51A>C
NM_000214.3:c.886+51A>C MANE Select	NP_000205.1:n.886+51A>C