Canonical Allele Identifier: CA2651914381

Gene: JAG1

Linked Data

• gnomAD v4: 20-10644617-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.10644617G>C , CM000682.2:g.10644617G>C	GRCh38
NC_000020.10:g.10625265G>C , CM000682.1:g.10625265G>C	GRCh37
NC_000020.9:g.10573265G>C	NCBI36
NG_007496.1:g.34430C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000254958.10:c.2345-233C>G MANE Select	ENSP00000254958.4:n.2345-233C>G
ENST00000617965.2:n.2934-233C>G
ENST00000254958.9:c.2345-233C>G	ENSP00000254958.4:n.2345-233C>G
ENST00000423891.6:n.2211-233C>G
ENST00000488480.2:n.987C>G
NM_000214.2:c.2345-233C>G	NP_000205.1:n.2345-233C>G
NM_000214.3:c.2345-233C>G MANE Select	NP_000205.1:n.2345-233C>G