Canonical Allele Identifier: CA53230257

Gene: RFX8

Linked Data

• dbSNP Id: rs868537468
• gnomAD v4: 2-101413056-A-G
• MyVariant Identifiers: chr2:g.102029518A>G (hg19) ; chr2:g.101413056A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.101413056A>G , CM000664.2:g.101413056A>G	GRCh38
NC_000002.11:g.102029518A>G , CM000664.1:g.102029518A>G	GRCh37
NC_000002.10:g.101395950A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000646893.2:c.916T>C	ENSP00000494249.2:p.Leu306=
ENST00000428343.6:c.577T>C MANE Select	ENSP00000401536.1:p.Leu193=
ENST00000646446.1:c.790T>C	ENSP00000494216.1:p.Leu264=
ENST00000646893.1:c.703T>C	ENSP00000494249.1:p.Leu235=
ENST00000428343.5:c.577T>C	ENSP00000401536.1:p.Leu193=
ENST00000481179.5:c.*293T>C	ENSP00000422968.1:n.*293T>C
NM_001145664.1:c.577T>C	NP_001139136.1:p.Leu193=
XM_011511771.1:c.805T>C	XP_011510073.1:p.Leu269=
XM_011511772.1:c.790T>C	XP_011510074.1:p.Leu264=
XM_011511773.1:c.487T>C	XP_011510075.1:p.Leu163=
XM_011511774.1:c.805T>C	XP_011510076.1:p.Leu269=
XM_011511775.1:c.805T>C	XP_011510077.1:p.Leu269=
XM_011511776.1:c.289T>C	XP_011510078.1:p.Leu97=
XM_011511777.1:c.289T>C	XP_011510079.1:p.Leu97=
XM_011511778.1:c.289T>C	XP_011510080.1:p.Leu97=
XM_011511779.1:c.746T>C	XP_011510081.1:p.Ile249Thr
XM_011511771.2:c.805T>C	XP_011510073.1:p.Leu269=
XM_011511777.2:c.289T>C	XP_011510079.1:p.Leu97=
XM_017004851.1:c.916T>C	XP_016860340.1:p.Leu306=
XM_017004852.1:c.703T>C	XP_016860341.1:p.Leu235=
XM_017004853.1:c.916T>C	XP_016860342.1:p.Leu306=
XM_017004854.1:c.916T>C	XP_016860343.1:p.Leu306=
XR_001738924.1:n.860T>C
NM_001145664.2:c.577T>C MANE Select	NP_001139136.2:p.Leu193=
NM_001367508.1:c.64T>C	NP_001354437.1:p.Leu22=
NM_001367509.1:c.64T>C	NP_001354438.1:p.Leu22=
NM_001367510.1:c.64T>C	NP_001354439.1:p.Leu22=