Canonical Allele Identifier: CA347974547

Gene: RFX8

Linked Data

• gnomAD v4: 2-101413049-C-A
• MyVariant Identifiers: chr2:g.102029511C>A (hg19) ; chr2:g.101413049C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.101413049C>A , CM000664.2:g.101413049C>A	GRCh38
NC_000002.11:g.102029511C>A , CM000664.1:g.102029511C>A	GRCh37
NC_000002.10:g.101395943C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000646893.2:c.923G>T	ENSP00000494249.2:p.Ser308Ile
ENST00000428343.6:c.584G>T MANE Select	ENSP00000401536.1:p.Ser195Ile
ENST00000646446.1:c.797G>T	ENSP00000494216.1:p.Ser266Ile
ENST00000646893.1:c.710G>T	ENSP00000494249.1:p.Ser237Ile
ENST00000428343.5:c.584G>T	ENSP00000401536.1:p.Ser195Ile
ENST00000481179.5:c.*300G>T	ENSP00000422968.1:n.*300G>T
NM_001145664.1:c.584G>T	NP_001139136.1:p.Ser195Ile
XM_011511771.1:c.812G>T	XP_011510073.1:p.Ser271Ile
XM_011511772.1:c.797G>T	XP_011510074.1:p.Ser266Ile
XM_011511773.1:c.494G>T	XP_011510075.1:p.Ser165Ile
XM_011511774.1:c.812G>T	XP_011510076.1:p.Ser271Ile
XM_011511775.1:c.812G>T	XP_011510077.1:p.Ser271Ile
XM_011511776.1:c.296G>T	XP_011510078.1:p.Ser99Ile
XM_011511777.1:c.296G>T	XP_011510079.1:p.Ser99Ile
XM_011511778.1:c.296G>T	XP_011510080.1:p.Ser99Ile
XM_011511779.1:c.753G>T	XP_011510081.1:p.Lys251Asn
XM_011511771.2:c.812G>T	XP_011510073.1:p.Ser271Ile
XM_011511777.2:c.296G>T	XP_011510079.1:p.Ser99Ile
XM_017004851.1:c.923G>T	XP_016860340.1:p.Ser308Ile
XM_017004852.1:c.710G>T	XP_016860341.1:p.Ser237Ile
XM_017004853.1:c.923G>T	XP_016860342.1:p.Ser308Ile
XM_017004854.1:c.923G>T	XP_016860343.1:p.Ser308Ile
XR_001738924.1:n.867G>T
NM_001145664.2:c.584G>T MANE Select	NP_001139136.2:p.Ser195Ile
NM_001367508.1:c.71G>T	NP_001354437.1:p.Ser24Ile
NM_001367509.1:c.71G>T	NP_001354438.1:p.Ser24Ile
NM_001367510.1:c.71G>T	NP_001354439.1:p.Ser24Ile