Canonical Allele Identifier: CA754220349

Gene: RFX8

Linked Data

• dbSNP Id: rs945346180
• gnomAD v3: 2-101413318-G-A
• gnomAD v4: 2-101413318-G-A
• MyVariant Identifiers: chr2:g.102029780G>A (hg19) ; chr2:g.101413318G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.101413318G>A , CM000664.2:g.101413318G>A	GRCh38
NC_000002.11:g.102029780G>A , CM000664.1:g.102029780G>A	GRCh37
NC_000002.10:g.101396212G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000646893.2:c.901-247C>T	ENSP00000494249.2:n.901-247C>T
ENST00000428343.6:c.562-247C>T MANE Select	ENSP00000401536.1:n.562-247C>T
ENST00000646446.1:c.775-247C>T	ENSP00000494216.1:n.775-247C>T
ENST00000646893.1:c.688-247C>T	ENSP00000494249.1:n.688-247C>T
ENST00000428343.5:c.562-247C>T	ENSP00000401536.1:n.562-247C>T
ENST00000481179.5:c.*278-247C>T	ENSP00000422968.1:n.*278-247C>T
NM_001145664.1:c.562-247C>T	NP_001139136.1:n.562-247C>T
XM_011511771.1:c.790-247C>T	XP_011510073.1:n.790-247C>T
XM_011511772.1:c.775-247C>T	XP_011510074.1:n.775-247C>T
XM_011511773.1:c.472-247C>T	XP_011510075.1:n.472-247C>T
XM_011511774.1:c.790-247C>T	XP_011510076.1:n.790-247C>T
XM_011511775.1:c.790-247C>T	XP_011510077.1:n.790-247C>T
XM_011511776.1:c.274-247C>T	XP_011510078.1:n.274-247C>T
XM_011511777.1:c.274-247C>T	XP_011510079.1:n.274-247C>T
XM_011511778.1:c.274-247C>T	XP_011510080.1:n.274-247C>T
XM_011511779.1:c.731-247C>T	XP_011510081.1:n.731-247C>T
XM_011511771.2:c.790-247C>T	XP_011510073.1:n.790-247C>T
XM_011511777.2:c.274-247C>T	XP_011510079.1:n.274-247C>T
XM_017004851.1:c.901-247C>T	XP_016860340.1:n.901-247C>T
XM_017004852.1:c.688-247C>T	XP_016860341.1:n.688-247C>T
XM_017004853.1:c.901-247C>T	XP_016860342.1:n.901-247C>T
XM_017004854.1:c.901-247C>T	XP_016860343.1:n.901-247C>T
XR_001738924.1:n.845-247C>T
NM_001145664.2:c.562-247C>T MANE Select	NP_001139136.2:n.562-247C>T
NM_001367508.1:c.49-247C>T	NP_001354437.1:n.49-247C>T
NM_001367509.1:c.49-247C>T	NP_001354438.1:n.49-247C>T
NM_001367510.1:c.49-247C>T	NP_001354439.1:n.49-247C>T