Canonical Allele Identifier: CA1099663858

Gene: JAZF1

Linked Data

• dbSNP Id: rs1784769631
• gnomAD v3: 7-27936866-A-G
• gnomAD v4: 7-27936866-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.27936866A>G , CM000669.2:g.27936866A>G	GRCh38
NC_000007.13:g.27976485A>G , CM000669.1:g.27976485A>G	GRCh37
NC_000007.12:g.27943010A>G	NCBI36
NG_011499.1:g.248953T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000283928.10:c.189-41450T>C MANE Select	ENSP00000283928.5:n.189-41450T>C
ENST00000649905.1:c.*231-41450T>C	ENSP00000497321.1:n.*231-41450T>C
ENST00000283928.9:c.189-41450T>C	ENSP00000283928.5:n.189-41450T>C
ENST00000420835.4:n.321-41450T>C
ENST00000427814.5:c.149-41450T>C
ENST00000430432.5:c.90-41450T>C	ENSP00000387976.1:n.90-41450T>C
ENST00000447620.5:c.117-41450T>C	ENSP00000415096.1:n.117-41450T>C
ENST00000452993.5:c.189-22058T>C	ENSP00000415984.1:n.189-22058T>C
ENST00000454041.1:c.189-23413T>C	ENSP00000399083.1:n.189-23413T>C
NM_175061.3:c.189-41450T>C	NP_778231.2:n.189-41450T>C
XM_006715656.1:c.-66-23413T>C	XP_006715719.1:n.-66-23413T>C
XR_926924.1:n.333-23413T>C
NM_175061.4:c.189-41450T>C MANE Select	NP_778231.2:n.189-41450T>C