Canonical Allele Identifier: CA634455494

Gene: JAG1

Linked Data

• dbSNP Id: rs1287453503
• gnomAD v2: 20-10654083-G-C
• gnomAD v3: 20-10673435-G-C
• gnomAD v4: 20-10673435-G-C
• MyVariant Identifiers: chr20:g.10654083G>C (hg19) ; chr20:g.10673435G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.10673435G>C , CM000682.2:g.10673435G>C	GRCh38
NC_000020.10:g.10654083G>C , CM000682.1:g.10654083G>C	GRCh37
NC_000020.9:g.10602083G>C	NCBI36
NG_007496.1:g.5612C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000254958.10:c.81+15C>G MANE Select	ENSP00000254958.4:n.81+15C>G
ENST00000254958.9:c.81+15C>G	ENSP00000254958.4:n.81+15C>G
NM_000214.2:c.81+15C>G	NP_000205.1:n.81+15C>G
NM_000214.3:c.81+15C>G MANE Select	NP_000205.1:n.81+15C>G