Canonical Allele Identifier: CA372840211

Gene: RFX3

Linked Data - Variant Effect Evidence

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.3293076C>T , CM000671.2:g.3293076C>T	GRCh38
NC_000009.11:g.3293076C>T , CM000671.1:g.3293076C>T	GRCh37
NC_000009.10:g.3283076C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000617270.5:c.731+1G>A MANE Select	ENSP00000482598.1:n.731+1G>A
ENST00000302303.5:c.731+1G>A	ENSP00000303847.2:n.731+1G>A
ENST00000358730.6:c.731+1G>A	ENSP00000351574.2:n.731+1G>A
ENST00000382004.7:c.731+1G>A	ENSP00000371434.3:n.731+1G>A
ENST00000617270.4:c.731+1G>A	ENSP00000482598.1:n.731+1G>A
NM_001282116.1:c.731+1G>A	NP_001269045.1:n.731+1G>A
NM_001282117.1:c.731+1G>A	NP_001269046.1:n.731+1G>A
NM_002919.3:c.731+1G>A	NP_002910.1:n.731+1G>A
NM_134428.2:c.731+1G>A	NP_602304.1:n.731+1G>A
XM_006716840.1:c.761+1G>A	XP_006716903.1:n.761+1G>A
XM_006716842.2:c.731+1G>A	XP_006716905.1:n.731+1G>A
XM_006716843.1:c.731+1G>A	XP_006716906.1:n.731+1G>A
XM_006716844.1:c.731+1G>A	XP_006716907.1:n.731+1G>A
XM_006716845.1:c.731+1G>A	XP_006716908.1:n.731+1G>A
XM_011517998.1:c.731+1G>A	XP_011516300.1:n.731+1G>A
XM_011517999.1:c.731+1G>A	XP_011516301.1:n.731+1G>A
XM_011518000.1:c.656+1G>A	XP_011516302.1:n.656+1G>A
XM_011518001.1:c.482+1G>A	XP_011516303.1:n.482+1G>A
XM_006716840.2:c.761+1G>A	XP_006716903.1:n.761+1G>A
XM_006716843.2:c.731+1G>A	XP_006716906.1:n.731+1G>A
XM_006716844.2:c.731+1G>A	XP_006716907.1:n.731+1G>A
XM_006716845.2:c.731+1G>A	XP_006716908.1:n.731+1G>A
XM_011517998.2:c.731+1G>A	XP_011516300.1:n.731+1G>A
XM_011517999.2:c.731+1G>A	XP_011516301.1:n.731+1G>A
XM_017015000.2:c.731+1G>A	XP_016870489.1:n.731+1G>A
XM_017015001.1:c.656+1G>A	XP_016870490.1:n.656+1G>A
XM_024447630.1:c.821+1G>A	XP_024303398.1:n.821+1G>A
XM_024447631.1:c.821+1G>A	XP_024303399.1:n.821+1G>A
XM_024447632.1:c.749+1G>A	XP_024303400.1:n.749+1G>A
XM_024447633.1:c.656+1G>A	XP_024303401.1:n.656+1G>A
XM_024447634.1:c.731+1G>A	XP_024303402.1:n.731+1G>A
XM_024447635.1:c.731+1G>A	XP_024303403.1:n.731+1G>A
NM_134428.3:c.731+1G>A	NP_602304.1:n.731+1G>A
NM_001282116.2:c.731+1G>A MANE Select	NP_001269045.1:n.731+1G>A
NM_001282117.2:c.731+1G>A	NP_001269046.1:n.731+1G>A
NM_001377999.1:c.731+1G>A	NP_001364928.1:n.731+1G>A
NM_002919.4:c.731+1G>A	NP_002910.1:n.731+1G>A