Canonical Allele Identifier: CA365428012
Gene: RFX6 HGNC NCBI

Linked Data

MyVariant Identifiers: chr6:g.117203547T>G (hg19) chr6:g.116882384T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.116882384T>G , CM000668.2:g.116882384T>G GRCh38
NC_000006.11:g.117203547T>G , CM000668.1:g.117203547T>G GRCh37
NC_000006.10:g.117310240T>G NCBI36
NG_027699.1:g.10172T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000332958.3:c.522T>G MANE Select ENSP00000332208.2:p.Phe174Leu
ENST00000332958.2:c.522T>G ENSP00000332208.2:p.Phe174Leu
ENST00000487683.5:n.586T>G
NM_173560.3:c.522T>G NP_775831.2:p.Phe174Leu
XM_011535589.1:c.522T>G XP_011533891.1:p.Phe174Leu
XM_017010477.1:c.144T>G XP_016865966.1:p.Phe48Leu
NM_173560.4:c.522T>G MANE Select NP_775831.2:p.Phe174Leu
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