Canonical Allele Identifier: CA2631607003

Gene: RBFOX1

Linked Data

• gnomAD v4: 16-6059150-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.6059150G>T , CM000678.2:g.6059150G>T	GRCh38
NC_000016.9:g.6109151G>T , CM000678.1:g.6109151G>T	GRCh37
NC_000016.8:g.6049152G>T	NCBI36
NG_011881.1:g.45020G>T
NG_011881.2:g.824399G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000550418.6:c.-127+39158G>T MANE Select	ENSP00000450031.1:n.-127+39158G>T
ENST00000569895.3:n.436+191815G>T
ENST00000641259.1:c.351+191815G>T	ENSP00000493041.1:n.351+191815G>T
ENST00000422070.8:c.3+39249G>T	ENSP00000391269.4:n.3+39249G>T
ENST00000547372.5:c.3+39249G>T	ENSP00000446842.1:n.3+39249G>T
ENST00000547605.5:c.-127+39158G>T	ENSP00000450402.1:n.-127+39158G>T
ENST00000548749.5:n.290+39158G>T
ENST00000550418.5:c.-127+39158G>T	ENSP00000450031.1:n.-127+39158G>T
ENST00000553186.5:c.-127+39158G>T	ENSP00000447753.1:n.-127+39158G>T
NM_001142333.1:c.-127+39158G>T	NP_001135805.1:n.-127+39158G>T
NM_001308117.1:c.3+39249G>T	NP_001295046.1:n.3+39249G>T
NM_018723.3:c.-127+39158G>T	NP_061193.2:n.-127+39158G>T
XM_005255379.2:c.3+39249G>T	XP_005255436.1:n.3+39249G>T
XM_005255384.2:c.-127+39158G>T	XP_005255441.1:n.-127+39158G>T
XM_005255390.2:c.-127+39158G>T	XP_005255447.1:n.-127+39158G>T
XM_011522544.1:c.351+191815G>T	XP_011520846.1:n.351+191815G>T
NM_001364800.1:c.-127+39158G>T	NP_001351729.1:n.-127+39158G>T
XM_005255390.4:c.-127+39158G>T	XP_005255447.1:n.-127+39158G>T
XM_017023318.2:c.471+191815G>T	XP_016878807.1:n.471+191815G>T
XM_017023319.2:c.471+191815G>T	XP_016878808.1:n.471+191815G>T
XM_017023320.2:c.3+39249G>T	XP_016878809.1:n.3+39249G>T
XM_017023324.2:c.3+39249G>T	XP_016878813.1:n.3+39249G>T
XM_017023326.2:c.-127+39158G>T	XP_016878815.1:n.-127+39158G>T
XM_017023328.2:c.3+39249G>T	XP_016878817.1:n.3+39249G>T
XM_017023329.2:c.3+39249G>T	XP_016878818.1:n.3+39249G>T
XM_017023335.2:c.-127+39158G>T	XP_016878824.1:n.-127+39158G>T
XM_017023341.2:c.-127+39158G>T	XP_016878830.1:n.-127+39158G>T
XM_024450303.1:c.432+191815G>T	XP_024306071.1:n.432+191815G>T
XM_024450307.1:c.-127+39158G>T	XP_024306075.1:n.-127+39158G>T
XM_024450309.1:c.3+39249G>T	XP_024306077.1:n.3+39249G>T
XM_024450310.1:c.3+39249G>T	XP_024306078.1:n.3+39249G>T
XM_024450314.1:c.3+39249G>T	XP_024306082.1:n.3+39249G>T
XM_024450316.1:c.-127+39158G>T	XP_024306084.1:n.-127+39158G>T
NM_001142333.2:c.-127+39158G>T	NP_001135805.1:n.-127+39158G>T
NM_001364800.2:c.-127+39158G>T	NP_001351729.1:n.-127+39158G>T
NM_018723.4:c.-127+39158G>T MANE Select	NP_061193.2:n.-127+39158G>T