Canonical Allele Identifier: CA3694380
Gene: RNF39 HGNC NCBI
COSMIC:
COSM3761780 (not active)
COSM3761781 (not active)
MyVariant.info:
GRCh38 chr6:g.30071463G>T
GRCh37 chr6:g.30039240G>T
Revel Score:
ENST00000376751 0.132
ENST00000244360 (MANE Select) 0.132
gnomAD v2:
6:30039240 G / T
gnomAD v3:
6:30071463 G / T
gnomAD v4:
chr6-30071463-G-T
Joint Max Group AF 0.27532762 (AFR)
Genomes Max Group AF 0.27010248 (AFR)
Exomes Max Group AF 0.27935389 (AFR)
dbSNP:
2301753
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.30071463G>T , CM000668.2:g.30071463G>T GRCh38
NC_000006.11:g.30039240G>T , CM000668.1:g.30039240G>T GRCh37
NC_000006.10:g.30147219G>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000244360.8:c.707C>A MANE Select ENSP00000244360.7:p.Ala236Glu
ENST00000244360.7:c.707C>A ENSP00000244360.7:p.Ala236Glu
ENST00000376751.8:c.707C>A ENSP00000365942.4:p.Ala236Glu
ENST00000244360.6:c.911C>A ENSP00000244360.6:p.Ala304Glu
ENST00000376751.7:c.911C>A ENSP00000365942.3:p.Ala304Glu
NM_025236.3:c.911C>A NP_079512.2:p.Ala304Glu
NM_170769.2:c.911C>A NP_739575.2:p.Ala304Glu
XM_017011325.1:c.452C>A XP_016866814.1:p.Ala151Glu
NM_025236.4:c.707C>A MANE Select NP_079512.3:p.Ala236Glu
NM_170769.3:c.707C>A NP_739575.3:p.Ala236Glu
Search 100 bp 5'
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