Canonical Allele Identifier: CA156427155
Gene: JAZF1 HGNC NCBI

Linked Data

dbSNP Id: rs540234925
gnomAD v3: 7-28140912-T-C
gnomAD v4: 7-28140912-T-C
MyVariant Identifiers: chr7:g.28180531T>C (hg19) chr7:g.28140912T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.28140912T>C , CM000669.2:g.28140912T>C GRCh38
NC_000007.13:g.28180531T>C , CM000669.1:g.28180531T>C GRCh37
NC_000007.12:g.28147056T>C NCBI36
NG_011499.1:g.44907A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000283928.10:c.115+39551A>G MANE Select ENSP00000283928.5:n.115+39551A>G
ENST00000649905.1:c.116-39108A>G ENSP00000497321.1:n.116-39108A>G
ENST00000283928.9:c.115+39551A>G ENSP00000283928.5:n.115+39551A>G
ENST00000452993.5:c.115+39551A>G ENSP00000415984.1:n.115+39551A>G
ENST00000454041.1:c.115+39551A>G ENSP00000399083.1:n.115+39551A>G
NM_175061.3:c.115+39551A>G NP_778231.2:n.115+39551A>G
XM_006715656.1:c.-140+39551A>G XP_006715719.1:n.-140+39551A>G
XR_926924.1:n.230+39551A>G
NM_175061.4:c.115+39551A>G MANE Select NP_778231.2:n.115+39551A>G
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