Canonical Allele Identifier: CA2589843278

Gene: JAG1

Linked Data

• dbSNP Id: rs2122600849
• gnomAD v3: 20-10644026-A-G
• gnomAD v4: 20-10644026-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.10644026A>G , CM000682.2:g.10644026A>G	GRCh38
NC_000020.10:g.10624674A>G , CM000682.1:g.10624674A>G	GRCh37
NC_000020.9:g.10572674A>G	NCBI36
NG_007496.1:g.35021T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000254958.10:c.2373-163T>C MANE Select	ENSP00000254958.4:n.2373-163T>C
ENST00000617965.2:n.2962-163T>C
ENST00000254958.9:c.2373-163T>C	ENSP00000254958.4:n.2373-163T>C
ENST00000423891.6:n.2239-163T>C
NM_000214.2:c.2373-163T>C	NP_000205.1:n.2373-163T>C
NM_000214.3:c.2373-163T>C MANE Select	NP_000205.1:n.2373-163T>C