Canonical Allele Identifier: CA2349887345

Gene: JAG1

Linked Data

• dbSNP Id: rs2067377781

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.10656185G>C , CM000682.2:g.10656185G>C	GRCh38
NC_000020.10:g.10636833G>C , CM000682.1:g.10636833G>C	GRCh37
NC_000020.9:g.10584833G>C	NCBI36
NG_007496.1:g.22862C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000254958.10:c.755+213C>G MANE Select	ENSP00000254958.4:n.755+213C>G
ENST00000254958.9:c.755+213C>G	ENSP00000254958.4:n.755+213C>G
ENST00000423891.6:n.621+213C>G
NM_000214.2:c.755+213C>G	NP_000205.1:n.755+213C>G
NM_000214.3:c.755+213C>G MANE Select	NP_000205.1:n.755+213C>G