Canonical Allele Identifier: CA2815263913

Gene: JAG1

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.10644624G>A , CM000682.2:g.10644624G>A	GRCh38
NC_000020.10:g.10625272G>A , CM000682.1:g.10625272G>A	GRCh37
NC_000020.9:g.10573272G>A	NCBI36
NG_007496.1:g.34423C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000254958.10:c.2345-240C>T MANE Select	ENSP00000254958.4:n.2345-240C>T
ENST00000617965.2:n.2934-240C>T
ENST00000254958.9:c.2345-240C>T	ENSP00000254958.4:n.2345-240C>T
ENST00000423891.6:n.2211-240C>T
ENST00000488480.2:n.980C>T
NM_000214.2:c.2345-240C>T	NP_000205.1:n.2345-240C>T
NM_000214.3:c.2345-240C>T MANE Select	NP_000205.1:n.2345-240C>T