Canonical Allele Identifier: CA427793719

Gene: RFX8

Linked Data

• gnomAD v4: 2-101413036-G-T
• MyVariant Identifiers: chr2:g.102029498G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.101413036G>T , CM000664.2:g.101413036G>T	GRCh38
NC_000002.11:g.102029498G>T , CM000664.1:g.102029498G>T	GRCh37
NC_000002.10:g.101395930G>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000646893.2:c.936C>A	ENSP00000494249.2:p.Val312=
ENST00000428343.6:c.597C>A MANE Select	ENSP00000401536.1:p.Val199=
ENST00000646446.1:c.810C>A	ENSP00000494216.1:p.Val270=
ENST00000646893.1:c.723C>A	ENSP00000494249.1:p.Val241=
ENST00000428343.5:c.597C>A	ENSP00000401536.1:p.Val199=
ENST00000481179.5:c.*313C>A	ENSP00000422968.1:n.*313C>A
NM_001145664.1:c.597C>A	NP_001139136.1:p.Val199=
XM_011511771.1:c.825C>A	XP_011510073.1:p.Val275=
XM_011511772.1:c.810C>A	XP_011510074.1:p.Val270=
XM_011511773.1:c.507C>A	XP_011510075.1:p.Val169=
XM_011511774.1:c.825C>A	XP_011510076.1:p.Val275=
XM_011511775.1:c.825C>A	XP_011510077.1:p.Val275=
XM_011511776.1:c.309C>A	XP_011510078.1:p.Val103=
XM_011511777.1:c.309C>A	XP_011510079.1:p.Val103=
XM_011511778.1:c.309C>A	XP_011510080.1:p.Val103=
XM_011511779.1:c.*10C>A	XP_011510081.1:n.*10C>A
XM_011511771.2:c.825C>A	XP_011510073.1:p.Val275=
XM_011511777.2:c.309C>A	XP_011510079.1:p.Val103=
XM_017004851.1:c.936C>A	XP_016860340.1:p.Val312=
XM_017004852.1:c.723C>A	XP_016860341.1:p.Val241=
XM_017004853.1:c.936C>A	XP_016860342.1:p.Val312=
XM_017004854.1:c.936C>A	XP_016860343.1:p.Val312=
XR_001738924.1:n.880C>A
NM_001145664.2:c.597C>A MANE Select	NP_001139136.2:p.Val199=
NM_001367508.1:c.84C>A	NP_001354437.1:p.Val28=
NM_001367509.1:c.84C>A	NP_001354438.1:p.Val28=
NM_001367510.1:c.84C>A	NP_001354439.1:p.Val28=