Canonical Allele Identifier: CA3973052
Gene: RFX6 HGNC NCBI

Linked Data

dbSNP Id: rs539746095
ExAC: 6:117203600 C / A
gnomAD v2: 6-117203600-C-A
gnomAD v3: 6-116882437-C-A
gnomAD v4: 6-116882437-C-A
MyVariant Identifiers: chr6:g.117203600C>A (hg19) chr6:g.116882437C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.116882437C>A , CM000668.2:g.116882437C>A GRCh38
NC_000006.11:g.117203600C>A , CM000668.1:g.117203600C>A GRCh37
NC_000006.10:g.117310293C>A NCBI36
NG_027699.1:g.10225C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000332958.3:c.566+9C>A MANE Select ENSP00000332208.2:n.566+9C>A
ENST00000332958.2:c.566+9C>A ENSP00000332208.2:n.566+9C>A
ENST00000487683.5:n.630+9C>A
NM_173560.3:c.566+9C>A NP_775831.2:n.566+9C>A
XM_011535589.1:c.566+9C>A XP_011533891.1:n.566+9C>A
XM_017010477.1:c.188+9C>A XP_016865966.1:n.188+9C>A
NM_173560.4:c.566+9C>A MANE Select NP_775831.2:n.566+9C>A
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