Canonical Allele Identifier: CA427793029

Gene: RFX8

Linked Data

• gnomAD v4: 2-101412916-T-C
• MyVariant Identifiers: chr2:g.102029378T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.101412916T>C , CM000664.2:g.101412916T>C	GRCh38
NC_000002.11:g.102029378T>C , CM000664.1:g.102029378T>C	GRCh37
NC_000002.10:g.101395810T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000646893.2:c.1056A>G	ENSP00000494249.2:p.Lys352=
ENST00000428343.6:c.717A>G MANE Select	ENSP00000401536.1:p.Lys239=
ENST00000646446.1:c.930A>G	ENSP00000494216.1:p.Lys310=
ENST00000646893.1:c.843A>G	ENSP00000494249.1:p.Lys281=
ENST00000428343.5:c.717A>G	ENSP00000401536.1:p.Lys239=
ENST00000481179.5:c.*433A>G	ENSP00000422968.1:n.*433A>G
NM_001145664.1:c.717A>G	NP_001139136.1:p.Lys239=
XM_011511771.1:c.945A>G	XP_011510073.1:p.Lys315=
XM_011511772.1:c.930A>G	XP_011510074.1:p.Lys310=
XM_011511773.1:c.627A>G	XP_011510075.1:p.Lys209=
XM_011511774.1:c.945A>G	XP_011510076.1:p.Lys315=
XM_011511775.1:c.945A>G	XP_011510077.1:p.Lys315=
XM_011511776.1:c.429A>G	XP_011510078.1:p.Lys143=
XM_011511777.1:c.429A>G	XP_011510079.1:p.Lys143=
XM_011511778.1:c.429A>G	XP_011510080.1:p.Lys143=
XM_011511771.2:c.945A>G	XP_011510073.1:p.Lys315=
XM_011511777.2:c.429A>G	XP_011510079.1:p.Lys143=
XM_017004851.1:c.1056A>G	XP_016860340.1:p.Lys352=
XM_017004852.1:c.843A>G	XP_016860341.1:p.Lys281=
XM_017004853.1:c.1056A>G	XP_016860342.1:p.Lys352=
XM_017004854.1:c.1056A>G	XP_016860343.1:p.Lys352=
XR_001738924.1:n.1000A>G
NM_001145664.2:c.717A>G MANE Select	NP_001139136.2:p.Lys239=
NM_001367508.1:c.204A>G	NP_001354437.1:p.Lys68=
NM_001367509.1:c.204A>G	NP_001354438.1:p.Lys68=
NM_001367510.1:c.204A>G	NP_001354439.1:p.Lys68=