Canonical Allele Identifier: CA347974393

Gene: RFX8

Linked Data

• MyVariant Identifiers: chr2:g.102029439T>G (hg19) ; chr2:g.101412977T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.101412977T>G , CM000664.2:g.101412977T>G	GRCh38
NC_000002.11:g.102029439T>G , CM000664.1:g.102029439T>G	GRCh37
NC_000002.10:g.101395871T>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000646893.2:c.995A>C	ENSP00000494249.2:p.Lys332Thr
ENST00000428343.6:c.656A>C MANE Select	ENSP00000401536.1:p.Lys219Thr
ENST00000646446.1:c.869A>C	ENSP00000494216.1:p.Lys290Thr
ENST00000646893.1:c.782A>C	ENSP00000494249.1:p.Lys261Thr
ENST00000428343.5:c.656A>C	ENSP00000401536.1:p.Lys219Thr
ENST00000481179.5:c.*372A>C	ENSP00000422968.1:n.*372A>C
NM_001145664.1:c.656A>C	NP_001139136.1:p.Lys219Thr
XM_011511771.1:c.884A>C	XP_011510073.1:p.Lys295Thr
XM_011511772.1:c.869A>C	XP_011510074.1:p.Lys290Thr
XM_011511773.1:c.566A>C	XP_011510075.1:p.Lys189Thr
XM_011511774.1:c.884A>C	XP_011510076.1:p.Lys295Thr
XM_011511775.1:c.884A>C	XP_011510077.1:p.Lys295Thr
XM_011511776.1:c.368A>C	XP_011510078.1:p.Lys123Thr
XM_011511777.1:c.368A>C	XP_011510079.1:p.Lys123Thr
XM_011511778.1:c.368A>C	XP_011510080.1:p.Lys123Thr
XM_011511779.1:c.*69A>C	XP_011510081.1:n.*69A>C
XM_011511771.2:c.884A>C	XP_011510073.1:p.Lys295Thr
XM_011511777.2:c.368A>C	XP_011510079.1:p.Lys123Thr
XM_017004851.1:c.995A>C	XP_016860340.1:p.Lys332Thr
XM_017004852.1:c.782A>C	XP_016860341.1:p.Lys261Thr
XM_017004853.1:c.995A>C	XP_016860342.1:p.Lys332Thr
XM_017004854.1:c.995A>C	XP_016860343.1:p.Lys332Thr
XR_001738924.1:n.939A>C
NM_001145664.2:c.656A>C MANE Select	NP_001139136.2:p.Lys219Thr
NM_001367508.1:c.143A>C	NP_001354437.1:p.Lys48Thr
NM_001367509.1:c.143A>C	NP_001354438.1:p.Lys48Thr
NM_001367510.1:c.143A>C	NP_001354439.1:p.Lys48Thr