Canonical Allele Identifier: CA347974406

Gene: RFX8

Linked Data

• gnomAD v4: 2-101412984-T-A
• MyVariant Identifiers: chr2:g.102029446T>A (hg19) ; chr2:g.101412984T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.101412984T>A , CM000664.2:g.101412984T>A	GRCh38
NC_000002.11:g.102029446T>A , CM000664.1:g.102029446T>A	GRCh37
NC_000002.10:g.101395878T>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000646893.2:c.988A>T	ENSP00000494249.2:p.Thr330Ser
ENST00000428343.6:c.649A>T MANE Select	ENSP00000401536.1:p.Thr217Ser
ENST00000646446.1:c.862A>T	ENSP00000494216.1:p.Thr288Ser
ENST00000646893.1:c.775A>T	ENSP00000494249.1:p.Thr259Ser
ENST00000428343.5:c.649A>T	ENSP00000401536.1:p.Thr217Ser
ENST00000481179.5:c.*365A>T	ENSP00000422968.1:n.*365A>T
NM_001145664.1:c.649A>T	NP_001139136.1:p.Thr217Ser
XM_011511771.1:c.877A>T	XP_011510073.1:p.Thr293Ser
XM_011511772.1:c.862A>T	XP_011510074.1:p.Thr288Ser
XM_011511773.1:c.559A>T	XP_011510075.1:p.Thr187Ser
XM_011511774.1:c.877A>T	XP_011510076.1:p.Thr293Ser
XM_011511775.1:c.877A>T	XP_011510077.1:p.Thr293Ser
XM_011511776.1:c.361A>T	XP_011510078.1:p.Thr121Ser
XM_011511777.1:c.361A>T	XP_011510079.1:p.Thr121Ser
XM_011511778.1:c.361A>T	XP_011510080.1:p.Thr121Ser
XM_011511779.1:c.*62A>T	XP_011510081.1:n.*62A>T
XM_011511771.2:c.877A>T	XP_011510073.1:p.Thr293Ser
XM_011511777.2:c.361A>T	XP_011510079.1:p.Thr121Ser
XM_017004851.1:c.988A>T	XP_016860340.1:p.Thr330Ser
XM_017004852.1:c.775A>T	XP_016860341.1:p.Thr259Ser
XM_017004853.1:c.988A>T	XP_016860342.1:p.Thr330Ser
XM_017004854.1:c.988A>T	XP_016860343.1:p.Thr330Ser
XR_001738924.1:n.932A>T
NM_001145664.2:c.649A>T MANE Select	NP_001139136.2:p.Thr217Ser
NM_001367508.1:c.136A>T	NP_001354437.1:p.Thr46Ser
NM_001367509.1:c.136A>T	NP_001354438.1:p.Thr46Ser
NM_001367510.1:c.136A>T	NP_001354439.1:p.Thr46Ser