Canonical Allele Identifier: CA3973043
Gene: RFX6 HGNC NCBI

Linked Data

ClinVar Variation Id: 1650999
ClinVar RCV Id: RCV002151462 RCV003960876 RCV004047018
dbSNP Id: rs151067974
ExAC: 6:117203532 A / T
gnomAD v2: 6-117203532-A-T
gnomAD v3: 6-116882369-A-T
gnomAD v4: 6-116882369-A-T
MyVariant Identifiers: chr6:g.117203532A>T (hg19) chr6:g.116882369A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.116882369A>T , CM000668.2:g.116882369A>T GRCh38
NC_000006.11:g.117203532A>T , CM000668.1:g.117203532A>T GRCh37
NC_000006.10:g.117310225A>T NCBI36
NG_027699.1:g.10157A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000332958.3:c.507A>T MANE Select ENSP00000332208.2:p.Thr169=
ENST00000332958.2:c.507A>T ENSP00000332208.2:p.Thr169=
ENST00000487683.5:n.571A>T
NM_173560.3:c.507A>T NP_775831.2:p.Thr169=
XM_011535589.1:c.507A>T XP_011533891.1:p.Thr169=
XM_017010477.1:c.129A>T XP_016865966.1:p.Thr43=
NM_173560.4:c.507A>T MANE Select NP_775831.2:p.Thr169=
Search 100 bp 5'
Search 100 bp 3'