Canonical Allele Identifier: CA2349882316

Gene: JAG1

Linked Data

• dbSNP Id: rs2047116266

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.10644616T>G , CM000682.2:g.10644616T>G	GRCh38
NC_000020.10:g.10625264T>G , CM000682.1:g.10625264T>G	GRCh37
NC_000020.9:g.10573264T>G	NCBI36
NG_007496.1:g.34431A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000254958.10:c.2345-232A>C MANE Select	ENSP00000254958.4:n.2345-232A>C
ENST00000617965.2:n.2934-232A>C
ENST00000254958.9:c.2345-232A>C	ENSP00000254958.4:n.2345-232A>C
ENST00000423891.6:n.2211-232A>C
ENST00000488480.2:n.988A>C
NM_000214.2:c.2345-232A>C	NP_000205.1:n.2345-232A>C
NM_000214.3:c.2345-232A>C MANE Select	NP_000205.1:n.2345-232A>C