Canonical Allele Identifier: CA156427146
Gene: JAZF1 HGNC NCBI

Linked Data

dbSNP Id: rs972487224
gnomAD v3: 7-28140892-C-T
gnomAD v4: 7-28140892-C-T
MyVariant Identifiers: chr7:g.28180511C>T (hg19) chr7:g.28140892C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.28140892C>T , CM000669.2:g.28140892C>T GRCh38
NC_000007.13:g.28180511C>T , CM000669.1:g.28180511C>T GRCh37
NC_000007.12:g.28147036C>T NCBI36
NG_011499.1:g.44927G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000283928.10:c.115+39571G>A MANE Select ENSP00000283928.5:n.115+39571G>A
ENST00000649905.1:c.116-39088G>A ENSP00000497321.1:n.116-39088G>A
ENST00000283928.9:c.115+39571G>A ENSP00000283928.5:n.115+39571G>A
ENST00000452993.5:c.115+39571G>A ENSP00000415984.1:n.115+39571G>A
ENST00000454041.1:c.115+39571G>A ENSP00000399083.1:n.115+39571G>A
NM_175061.3:c.115+39571G>A NP_778231.2:n.115+39571G>A
XM_006715656.1:c.-140+39571G>A XP_006715719.1:n.-140+39571G>A
XR_926924.1:n.230+39571G>A
NM_175061.4:c.115+39571G>A MANE Select NP_778231.2:n.115+39571G>A
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