Canonical Allele Identifier: CA1099663869

Gene: JAZF1

Linked Data

• dbSNP Id: rs1784770547
• gnomAD v3: 7-27936947-T-C
• gnomAD v4: 7-27936947-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.27936947T>C , CM000669.2:g.27936947T>C	GRCh38
NC_000007.13:g.27976566T>C , CM000669.1:g.27976566T>C	GRCh37
NC_000007.12:g.27943091T>C	NCBI36
NG_011499.1:g.248872A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000283928.10:c.189-41531A>G MANE Select	ENSP00000283928.5:n.189-41531A>G
ENST00000649905.1:c.*231-41531A>G	ENSP00000497321.1:n.*231-41531A>G
ENST00000283928.9:c.189-41531A>G	ENSP00000283928.5:n.189-41531A>G
ENST00000420835.4:n.321-41531A>G
ENST00000427814.5:c.149-41531A>G
ENST00000430432.5:c.90-41531A>G	ENSP00000387976.1:n.90-41531A>G
ENST00000447620.5:c.117-41531A>G	ENSP00000415096.1:n.117-41531A>G
ENST00000452993.5:c.189-22139A>G	ENSP00000415984.1:n.189-22139A>G
ENST00000454041.1:c.189-23494A>G	ENSP00000399083.1:n.189-23494A>G
NM_175061.3:c.189-41531A>G	NP_778231.2:n.189-41531A>G
XM_006715656.1:c.-66-23494A>G	XP_006715719.1:n.-66-23494A>G
XR_926924.1:n.333-23494A>G
NM_175061.4:c.189-41531A>G MANE Select	NP_778231.2:n.189-41531A>G