Canonical Allele Identifier: CA15440999
Gene: RFX6 HGNC NCBI
COSMIC:
COSN16968961 (not active)
MyVariant.info:
GRCh38 chr6:g.116888889T>C
GRCh37 chr6:g.117210052T>C
gnomAD v2:
6:117210052 T / C
gnomAD v3:
6:116888889 T / C
gnomAD v4:
chr6-116888889-T-C
Joint Max Group AF 0.36258693 (SAS)
Genomes Max Group AF 0.36258693 (SAS)
dbSNP:
339331
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.116888889T>C , CM000668.2:g.116888889T>C GRCh38
NC_000006.11:g.117210052T>C , CM000668.1:g.117210052T>C GRCh37
NC_000006.10:g.117316745T>C NCBI36
NG_027699.1:g.16677T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000332958.3:c.567-5098T>C MANE Select ENSP00000332208.2:n.567-5098T>C
ENST00000332958.2:c.567-5098T>C ENSP00000332208.2:n.567-5098T>C
ENST00000471966.1:n.257+3844T>C
ENST00000487683.5:n.631-5098T>C
NM_173560.3:c.567-5098T>C NP_775831.2:n.567-5098T>C
XM_011535589.1:c.567-5098T>C XP_011533891.1:n.567-5098T>C
XM_017010477.1:c.189-5098T>C XP_016865966.1:n.189-5098T>C
NM_173560.4:c.567-5098T>C MANE Select NP_775831.2:n.567-5098T>C
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