Canonical Allele Identifier: CA12535310
Gene: JAZF1 HGNC NCBI
MyVariant.info:
GRCh38 chr7:g.28149792T>C
GRCh37 chr7:g.28189411T>C
gnomAD v2:
7:28189411 T / C
gnomAD v3:
7:28149792 T / C
gnomAD v4:
chr7-28149792-T-C
Joint Max Group AF 0.49964844 (NFE)
Genomes Max Group AF 0.49964844 (NFE)
ClinVar RCV:
RCV001708844
ClinVar Variation:
1287219
dbSNP:
1635852
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.28149792T>C , CM000669.2:g.28149792T>C GRCh38
NC_000007.13:g.28189411T>C , CM000669.1:g.28189411T>C GRCh37
NC_000007.12:g.28155936T>C NCBI36
NG_011499.1:g.36027A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000283928.10:c.115+30671A>G MANE Select ENSP00000283928.5:n.115+30671A>G
ENST00000649905.1:c.115+30671A>G ENSP00000497321.1:n.115+30671A>G
ENST00000283928.9:c.115+30671A>G ENSP00000283928.5:n.115+30671A>G
ENST00000452993.5:c.115+30671A>G ENSP00000415984.1:n.115+30671A>G
ENST00000454041.1:c.115+30671A>G ENSP00000399083.1:n.115+30671A>G
NM_175061.3:c.115+30671A>G NP_778231.2:n.115+30671A>G
XM_006715656.1:c.-140+30671A>G XP_006715719.1:n.-140+30671A>G
XR_926924.1:n.230+30671A>G
NM_175061.4:c.115+30671A>G MANE Select NP_778231.2:n.115+30671A>G
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