Canonical Allele Identifier: CA573623299

Gene: JAZF1

Linked Data

• dbSNP Id: rs1171428028
• gnomAD v2: 7-28185134-T-C
• gnomAD v3: 7-28145515-T-C
• gnomAD v4: 7-28145515-T-C
• MyVariant Identifiers: chr7:g.28185134T>C (hg19) ; chr7:g.28145515T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.28145515T>C , CM000669.2:g.28145515T>C	GRCh38
NC_000007.13:g.28185134T>C , CM000669.1:g.28185134T>C	GRCh37
NC_000007.12:g.28151659T>C	NCBI36
NG_011499.1:g.40304A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000283928.10:c.115+34948A>G MANE Select	ENSP00000283928.5:n.115+34948A>G
ENST00000649905.1:c.115+34948A>G	ENSP00000497321.1:n.115+34948A>G
ENST00000283928.9:c.115+34948A>G	ENSP00000283928.5:n.115+34948A>G
ENST00000452993.5:c.115+34948A>G	ENSP00000415984.1:n.115+34948A>G
ENST00000454041.1:c.115+34948A>G	ENSP00000399083.1:n.115+34948A>G
NM_175061.3:c.115+34948A>G	NP_778231.2:n.115+34948A>G
XM_006715656.1:c.-140+34948A>G	XP_006715719.1:n.-140+34948A>G
XR_926924.1:n.230+34948A>G
NM_175061.4:c.115+34948A>G MANE Select	NP_778231.2:n.115+34948A>G