Canonical Allele Identifier: CA837270636

Gene: JAZF1

Linked Data

• dbSNP Id: rs1392512943
• gnomAD v3: 7-28140918-A-G
• gnomAD v4: 7-28140918-A-G
• MyVariant Identifiers: chr7:g.28180537A>G (hg19) ; chr7:g.28140918A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.28140918A>G , CM000669.2:g.28140918A>G	GRCh38
NC_000007.13:g.28180537A>G , CM000669.1:g.28180537A>G	GRCh37
NC_000007.12:g.28147062A>G	NCBI36
NG_011499.1:g.44901T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000283928.10:c.115+39545T>C MANE Select	ENSP00000283928.5:n.115+39545T>C
ENST00000649905.1:c.116-39114T>C	ENSP00000497321.1:n.116-39114T>C
ENST00000283928.9:c.115+39545T>C	ENSP00000283928.5:n.115+39545T>C
ENST00000452993.5:c.115+39545T>C	ENSP00000415984.1:n.115+39545T>C
ENST00000454041.1:c.115+39545T>C	ENSP00000399083.1:n.115+39545T>C
NM_175061.3:c.115+39545T>C	NP_778231.2:n.115+39545T>C
XM_006715656.1:c.-140+39545T>C	XP_006715719.1:n.-140+39545T>C
XR_926924.1:n.230+39545T>C
NM_175061.4:c.115+39545T>C MANE Select	NP_778231.2:n.115+39545T>C