Canonical Allele Identifier: CA13631421

Gene: RFX4

Linked Data

• dbSNP Id: rs2067615
• gnomAD v2: 12-107149422-A-T
• gnomAD v3: 12-106755644-A-T
• gnomAD v4: 12-106755644-A-T
• MyVariant Identifiers: chr12:g.107149422A>T (hg19) ; chr12:g.106755644A>T (hg38)

Genomic Alleles

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

Transcript Alleles

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