Canonical Allele Identifier: CA156404348

Gene: JAZF1

Linked Data

• dbSNP Id: rs895292300
• gnomAD v2: 7-27976463-G-A
• gnomAD v3: 7-27936844-G-A
• gnomAD v4: 7-27936844-G-A
• MyVariant Identifiers: chr7:g.27976463G>A (hg19) ; chr7:g.27936844G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.27936844G>A , CM000669.2:g.27936844G>A	GRCh38
NC_000007.13:g.27976463G>A , CM000669.1:g.27976463G>A	GRCh37
NC_000007.12:g.27942988G>A	NCBI36
NG_011499.1:g.248975C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000283928.10:c.189-41428C>T MANE Select	ENSP00000283928.5:n.189-41428C>T
ENST00000649905.1:c.*231-41428C>T	ENSP00000497321.1:n.*231-41428C>T
ENST00000283928.9:c.189-41428C>T	ENSP00000283928.5:n.189-41428C>T
ENST00000420835.4:n.321-41428C>T
ENST00000427814.5:c.149-41428C>T
ENST00000430432.5:c.90-41428C>T	ENSP00000387976.1:n.90-41428C>T
ENST00000447620.5:c.117-41428C>T	ENSP00000415096.1:n.117-41428C>T
ENST00000452993.5:c.189-22036C>T	ENSP00000415984.1:n.189-22036C>T
ENST00000454041.1:c.189-23391C>T	ENSP00000399083.1:n.189-23391C>T
NM_175061.3:c.189-41428C>T	NP_778231.2:n.189-41428C>T
XM_006715656.1:c.-66-23391C>T	XP_006715719.1:n.-66-23391C>T
XR_926924.1:n.333-23391C>T
NM_175061.4:c.189-41428C>T MANE Select	NP_778231.2:n.189-41428C>T