Canonical Allele Identifier: CA10607683

Gene: RFX5

Linked Data

• ClinVar Variation Id: 292606
• ClinVar RCV Id: RCV000398323
• dbSNP Id: rs2233857
• gnomAD v2: 1-151314418-T-C
• gnomAD v3: 1-151341942-T-C
• gnomAD v4: 1-151341942-T-C
• MyVariant Identifiers: chr1:g.151314418T>C (hg19) ; chr1:g.151341942T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.151341942T>C , CM000663.2:g.151341942T>C	GRCh38
NC_000001.10:g.151314418T>C , CM000663.1:g.151314418T>C	GRCh37
NC_000001.9:g.149581042T>C	NCBI36
NG_007576.1:g.10352A>G , LRG_101:g.10352A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452671.7:c.*244A>G MANE Select	ENSP00000389130.2:n.*244A>G
ENST00000290524.8:c.*244A>G	ENSP00000290524.4:n.*244A>G
ENST00000368870.6:c.*244A>G	ENSP00000357864.2:n.*244A>G
NM_000449.3:c.*244A>G , LRG_101t1:c.*244A>G	NP_000440.1:n.*244A>G
NM_001025603.1:c.*244A>G	NP_001020774.1:n.*244A>G
XM_005245405.1:c.*244A>G	XP_005245462.1:n.*244A>G
XM_005245406.2:c.*244A>G	XP_005245463.1:n.*244A>G
XM_011509847.1:c.*244A>G	XP_011508149.1:n.*244A>G
XM_011509848.1:c.*244A>G	XP_011508150.1:n.*244A>G
XM_011509849.1:c.*244A>G	XP_011508151.1:n.*244A>G
XM_011509850.1:c.*244A>G	XP_011508152.1:n.*244A>G
XM_005245406.3:c.*244A>G	XP_005245463.1:n.*244A>G
XM_017001999.1:c.*244A>G	XP_016857488.1:n.*244A>G
XM_017002000.1:c.*244A>G	XP_016857489.1:n.*244A>G
XM_024448791.1:c.*244A>G	XP_024304559.1:n.*244A>G
NM_001025603.2:c.*244A>G MANE Select	NP_001020774.1:n.*244A>G
NM_000449.4:c.*244A>G	NP_000440.1:n.*244A>G
NM_001379412.1:c.*244A>G	NP_001366341.1:n.*244A>G
NM_001379413.1:c.*244A>G	NP_001366342.1:n.*244A>G
NM_001379414.1:c.*244A>G	NP_001366343.1:n.*244A>G
NM_001379415.1:c.*244A>G	NP_001366344.1:n.*244A>G
NM_001379416.1:c.*244A>G	NP_001366345.1:n.*244A>G
NM_001379417.1:c.*244A>G	NP_001366346.1:n.*244A>G
NM_001379418.1:c.*244A>G	NP_001366347.1:n.*244A>G
NM_001379419.1:c.*244A>G	NP_001366348.1:n.*244A>G
NM_001379420.1:c.*244A>G	NP_001366349.1:n.*244A>G