Canonical Allele Identifier: CA347974321

Gene: RFX8

Linked Data

• gnomAD v4: 2-101412944-T-A
• MyVariant Identifiers: chr2:g.102029406T>A (hg19) ; chr2:g.101412944T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.101412944T>A , CM000664.2:g.101412944T>A	GRCh38
NC_000002.11:g.102029406T>A , CM000664.1:g.102029406T>A	GRCh37
NC_000002.10:g.101395838T>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000646893.2:c.1028A>T	ENSP00000494249.2:p.Asp343Val
ENST00000428343.6:c.689A>T MANE Select	ENSP00000401536.1:p.Asp230Val
ENST00000646446.1:c.902A>T	ENSP00000494216.1:p.Asp301Val
ENST00000646893.1:c.815A>T	ENSP00000494249.1:p.Asp272Val
ENST00000428343.5:c.689A>T	ENSP00000401536.1:p.Asp230Val
ENST00000481179.5:c.*405A>T	ENSP00000422968.1:n.*405A>T
NM_001145664.1:c.689A>T	NP_001139136.1:p.Asp230Val
XM_011511771.1:c.917A>T	XP_011510073.1:p.Asp306Val
XM_011511772.1:c.902A>T	XP_011510074.1:p.Asp301Val
XM_011511773.1:c.599A>T	XP_011510075.1:p.Asp200Val
XM_011511774.1:c.917A>T	XP_011510076.1:p.Asp306Val
XM_011511775.1:c.917A>T	XP_011510077.1:p.Asp306Val
XM_011511776.1:c.401A>T	XP_011510078.1:p.Asp134Val
XM_011511777.1:c.401A>T	XP_011510079.1:p.Asp134Val
XM_011511778.1:c.401A>T	XP_011510080.1:p.Asp134Val
XM_011511771.2:c.917A>T	XP_011510073.1:p.Asp306Val
XM_011511777.2:c.401A>T	XP_011510079.1:p.Asp134Val
XM_017004851.1:c.1028A>T	XP_016860340.1:p.Asp343Val
XM_017004852.1:c.815A>T	XP_016860341.1:p.Asp272Val
XM_017004853.1:c.1028A>T	XP_016860342.1:p.Asp343Val
XM_017004854.1:c.1028A>T	XP_016860343.1:p.Asp343Val
XR_001738924.1:n.972A>T
NM_001145664.2:c.689A>T MANE Select	NP_001139136.2:p.Asp230Val
NM_001367508.1:c.176A>T	NP_001354437.1:p.Asp59Val
NM_001367509.1:c.176A>T	NP_001354438.1:p.Asp59Val
NM_001367510.1:c.176A>T	NP_001354439.1:p.Asp59Val