Canonical Allele Identifier: CA347974260

Gene: RFX8

Linked Data

• gnomAD v4: 2-101412919-C-A
• MyVariant Identifiers: chr2:g.102029381C>A (hg19) ; chr2:g.101412919C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.101412919C>A , CM000664.2:g.101412919C>A	GRCh38
NC_000002.11:g.102029381C>A , CM000664.1:g.102029381C>A	GRCh37
NC_000002.10:g.101395813C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000646893.2:c.1053G>T	ENSP00000494249.2:p.Met351Ile
ENST00000428343.6:c.714G>T MANE Select	ENSP00000401536.1:p.Met238Ile
ENST00000646446.1:c.927G>T	ENSP00000494216.1:p.Met309Ile
ENST00000646893.1:c.840G>T	ENSP00000494249.1:p.Met280Ile
ENST00000428343.5:c.714G>T	ENSP00000401536.1:p.Met238Ile
ENST00000481179.5:c.*430G>T	ENSP00000422968.1:n.*430G>T
NM_001145664.1:c.714G>T	NP_001139136.1:p.Met238Ile
XM_011511771.1:c.942G>T	XP_011510073.1:p.Met314Ile
XM_011511772.1:c.927G>T	XP_011510074.1:p.Met309Ile
XM_011511773.1:c.624G>T	XP_011510075.1:p.Met208Ile
XM_011511774.1:c.942G>T	XP_011510076.1:p.Met314Ile
XM_011511775.1:c.942G>T	XP_011510077.1:p.Met314Ile
XM_011511776.1:c.426G>T	XP_011510078.1:p.Met142Ile
XM_011511777.1:c.426G>T	XP_011510079.1:p.Met142Ile
XM_011511778.1:c.426G>T	XP_011510080.1:p.Met142Ile
XM_011511771.2:c.942G>T	XP_011510073.1:p.Met314Ile
XM_011511777.2:c.426G>T	XP_011510079.1:p.Met142Ile
XM_017004851.1:c.1053G>T	XP_016860340.1:p.Met351Ile
XM_017004852.1:c.840G>T	XP_016860341.1:p.Met280Ile
XM_017004853.1:c.1053G>T	XP_016860342.1:p.Met351Ile
XM_017004854.1:c.1053G>T	XP_016860343.1:p.Met351Ile
XR_001738924.1:n.997G>T
NM_001145664.2:c.714G>T MANE Select	NP_001139136.2:p.Met238Ile
NM_001367508.1:c.201G>T	NP_001354437.1:p.Met67Ile
NM_001367509.1:c.201G>T	NP_001354438.1:p.Met67Ile
NM_001367510.1:c.201G>T	NP_001354439.1:p.Met67Ile