Canonical Allele Identifier: CA2061189893

Gene: RFX4

Linked Data

• dbSNP Id: rs2067615

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.106755644A>G , CM000674.2:g.106755644A>G	GRCh38
NC_000012.11:g.107149422A>G , CM000674.1:g.107149422A>G	GRCh37
NC_000012.10:g.105673552A>G	NCBI36
NG_047074.1:g.177738A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000392842.6:c.1935+4851A>G MANE Select	ENSP00000376585.1:n.1935+4851A>G
ENST00000229387.6:c.1653+4851A>G	ENSP00000229387.5:n.1653+4851A>G
ENST00000357881.8:c.1962+4851A>G	ENSP00000350552.4:n.1962+4851A>G
ENST00000392842.5:c.1935+4851A>G	ENSP00000376585.1:n.1935+4851A>G
NM_001206691.1:c.1962+4851A>G	NP_001193620.1:n.1962+4851A>G
NM_032491.5:c.1653+4851A>G	NP_115880.2:n.1653+4851A>G
NM_213594.2:c.1935+4851A>G	NP_998759.1:n.1935+4851A>G
NR_040246.1:n.142+19046T>C
NM_001206691.2:c.1962+4851A>G	NP_001193620.1:n.1962+4851A>G
NM_032491.6:c.1653+4851A>G	NP_115880.2:n.1653+4851A>G
NM_213594.3:c.1935+4851A>G MANE Select	NP_998759.1:n.1935+4851A>G