Canonical Allele Identifier: CA232409

Gene: RFX4

Linked Data

• ClinVar Variation Id: 92042
• ClinVar RCV Id: RCV000122599
• dbSNP Id: rs386352356
• MyVariant Identifiers: chr12:g.107033154C>T (hg19) ; chr12:g.106639376C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.106639376C>T , CM000674.2:g.106639376C>T	GRCh38
NC_000012.11:g.107033154C>T , CM000674.1:g.107033154C>T	GRCh37
NC_000012.10:g.105557284C>T	NCBI36
NG_047074.1:g.61470C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000392842.6:c.175C>T MANE Select	ENSP00000376585.1:p.Pro59Ser
ENST00000357881.8:c.202C>T	ENSP00000350552.4:p.Pro68Ser
ENST00000392842.5:c.175C>T	ENSP00000376585.1:p.Pro59Ser
ENST00000536688.5:n.307C>T
ENST00000536722.5:c.202C>T	ENSP00000444163.1:p.Pro68Ser
ENST00000539967.6:c.-236C>T	ENSP00000473326.1:n.-236C>T
ENST00000546882.5:c.88C>T	ENSP00000447423.1:p.Pro30Ser
ENST00000549040.5:c.-75C>T	ENSP00000447735.1:n.-75C>T
ENST00000552773.1:n.45C>T
NM_001206691.1:c.202C>T	NP_001193620.1:p.Pro68Ser
NM_213594.2:c.175C>T	NP_998759.1:p.Pro59Ser
NR_040246.1:n.143-131566G>A
NM_001206691.2:c.202C>T	NP_001193620.1:p.Pro68Ser
NM_213594.3:c.175C>T MANE Select	NP_998759.1:p.Pro59Ser