Canonical Allele Identifier: CA427793004

Gene: RFX8

Linked Data

• dbSNP Id: rs1686222166
• gnomAD v4: 2-101412855-A-G
• MyVariant Identifiers: chr2:g.102029317A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.101412855A>G , CM000664.2:g.101412855A>G	GRCh38
NC_000002.11:g.102029317A>G , CM000664.1:g.102029317A>G	GRCh37
NC_000002.10:g.101395749A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000646893.2:c.1057+60T>C	ENSP00000494249.2:n.1057+60T>C
ENST00000428343.6:c.718+60T>C MANE Select	ENSP00000401536.1:n.718+60T>C
ENST00000646446.1:c.931+60T>C	ENSP00000494216.1:n.931+60T>C
ENST00000646893.1:c.844+60T>C	ENSP00000494249.1:n.844+60T>C
ENST00000428343.5:c.718+60T>C	ENSP00000401536.1:n.718+60T>C
ENST00000481179.5:c.*434+60T>C	ENSP00000422968.1:n.*434+60T>C
NM_001145664.1:c.718+60T>C	NP_001139136.1:n.718+60T>C
XM_011511771.1:c.946+60T>C	XP_011510073.1:n.946+60T>C
XM_011511772.1:c.931+60T>C	XP_011510074.1:n.931+60T>C
XM_011511773.1:c.628+60T>C	XP_011510075.1:n.628+60T>C
XM_011511774.1:c.946+60T>C	XP_011510076.1:n.946+60T>C
XM_011511775.1:c.946+60T>C	XP_011510077.1:n.946+60T>C
XM_011511776.1:c.430+60T>C	XP_011510078.1:n.430+60T>C
XM_011511777.1:c.430+60T>C	XP_011510079.1:n.430+60T>C
XM_011511778.1:c.430+60T>C	XP_011510080.1:n.430+60T>C
XM_011511771.2:c.946+60T>C	XP_011510073.1:n.946+60T>C
XM_011511777.2:c.430+60T>C	XP_011510079.1:n.430+60T>C
XM_017004851.1:c.1057+60T>C	XP_016860340.1:n.1057+60T>C
XM_017004852.1:c.844+60T>C	XP_016860341.1:n.844+60T>C
XM_017004853.1:c.1057+60T>C	XP_016860342.1:n.1057+60T>C
XM_017004854.1:c.1057+60T>C	XP_016860343.1:n.1057+60T>C
XR_001738924.1:n.1001+60T>C
NM_001145664.2:c.718+60T>C MANE Select	NP_001139136.2:n.718+60T>C
NM_001367508.1:c.205+60T>C	NP_001354437.1:n.205+60T>C
NM_001367509.1:c.205+60T>C	NP_001354438.1:n.205+60T>C
NM_001367510.1:c.205+60T>C	NP_001354439.1:n.205+60T>C