Canonical Allele Identifier: CA8810365

Gene: RBFOX3

Linked Data

• ClinVar Variation Id: 252527
• ClinVar RCV Id: RCV000239119
• dbSNP Id: rs756097482
• ExAC: 17:77111784 T / G
• gnomAD v2: 17-77111784-T-G
• gnomAD v3: 17-79115702-T-G
• gnomAD v4: 17-79115702-T-G
• MyVariant Identifiers: chr17:g.77111784T>G (hg19) ; chr17:g.79115702T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.79115702T>G , CM000679.2:g.79115702T>G	GRCh38
NC_000017.10:g.77111784T>G , CM000679.1:g.77111784T>G	GRCh37
NC_000017.9:g.74623379T>G	NCBI36
NG_053112.1:g.500502A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000693108.1:c.14A>C MANE Select	ENSP00000510395.1:p.Tyr5Ser
ENST00000580155.5:c.14A>C	ENSP00000463653.1:p.Tyr5Ser
ENST00000580508.1:c.152A>C	ENSP00000467872.1:p.Tyr51Ser
ENST00000582043.5:c.14A>C	ENSP00000463964.1:p.Tyr5Ser
ENST00000583458.5:c.14A>C	ENSP00000464186.1:p.Tyr5Ser
ENST00000584778.5:c.14A>C	ENSP00000462007.1:p.Tyr5Ser
NM_001082575.2:c.14A>C	NP_001076044.1:p.Tyr5Ser
XM_011524359.1:c.14A>C	XP_011522661.1:p.Tyr5Ser
XM_011524360.1:c.14A>C	XP_011522662.1:p.Tyr5Ser
XM_011524361.1:c.14A>C	XP_011522663.1:p.Tyr5Ser
XM_011524362.1:c.14A>C	XP_011522664.1:p.Tyr5Ser
XM_011524363.1:c.14A>C	XP_011522665.1:p.Tyr5Ser
XM_011524364.1:c.14A>C	XP_011522666.1:p.Tyr5Ser
XM_011524365.1:c.14A>C	XP_011522667.1:p.Tyr5Ser
XM_011524366.1:c.14A>C	XP_011522668.1:p.Tyr5Ser
XM_011524367.1:c.14A>C	XP_011522669.1:p.Tyr5Ser
XM_011524368.1:c.14A>C	XP_011522670.1:p.Tyr5Ser
NM_001350451.1:c.14A>C	NP_001337380.1:p.Tyr5Ser
NM_001350453.1:c.14A>C	NP_001337382.1:p.Tyr5Ser
XM_011524362.2:c.14A>C	XP_011522664.1:p.Tyr5Ser
XM_011524365.2:c.14A>C	XP_011522667.1:p.Tyr5Ser
XM_011524366.2:c.14A>C	XP_011522668.1:p.Tyr5Ser
XM_011524367.2:c.14A>C	XP_011522669.1:p.Tyr5Ser
XM_017024208.1:c.14A>C	XP_016879697.1:p.Tyr5Ser
XM_017024209.1:c.14A>C	XP_016879698.1:p.Tyr5Ser
XM_017024210.2:c.14A>C	XP_016879699.1:p.Tyr5Ser
XM_017024211.2:c.14A>C	XP_016879700.1:p.Tyr5Ser
XM_024450592.1:c.14A>C	XP_024306360.1:p.Tyr5Ser
XM_024450593.1:c.14A>C	XP_024306361.1:p.Tyr5Ser
XM_024450594.1:c.14A>C	XP_024306362.1:p.Tyr5Ser
XM_024450595.1:c.14A>C	XP_024306363.1:p.Tyr5Ser
XM_024450596.1:c.14A>C	XP_024306364.1:p.Tyr5Ser
XM_024450597.1:c.14A>C	XP_024306365.1:p.Tyr5Ser
XM_024450598.1:c.14A>C	XP_024306366.1:p.Tyr5Ser
XM_024450599.1:c.14A>C	XP_024306367.1:p.Tyr5Ser
XM_024450600.1:c.14A>C	XP_024306368.1:p.Tyr5Ser
XM_024450601.1:c.14A>C	XP_024306369.1:p.Tyr5Ser
XM_024450602.1:c.14A>C	XP_024306370.1:p.Tyr5Ser
XM_024450603.1:c.14A>C	XP_024306371.1:p.Tyr5Ser
NM_001350451.2:c.14A>C MANE Select	NP_001337380.1:p.Tyr5Ser
NM_001350453.2:c.14A>C	NP_001337382.1:p.Tyr5Ser
NM_001082575.3:c.14A>C	NP_001076044.1:p.Tyr5Ser
NM_001385804.1:c.14A>C	NP_001372733.1:p.Tyr5Ser
NM_001385805.1:c.14A>C	NP_001372734.1:p.Tyr5Ser
NM_001385806.1:c.14A>C	NP_001372735.1:p.Tyr5Ser
NM_001385807.1:c.14A>C	NP_001372736.1:p.Tyr5Ser
NM_001385808.1:c.14A>C	NP_001372737.1:p.Tyr5Ser
NM_001385809.1:c.14A>C	NP_001372738.1:p.Tyr5Ser
NM_001385810.1:c.14A>C	NP_001372739.1:p.Tyr5Ser
NM_001385811.1:c.14A>C	NP_001372740.1:p.Tyr5Ser
NM_001385812.1:c.14A>C	NP_001372741.1:p.Tyr5Ser
NM_001385813.1:c.14A>C	NP_001372742.1:p.Tyr5Ser
NM_001385814.1:c.14A>C	NP_001372743.1:p.Tyr5Ser
NM_001385815.1:c.14A>C	NP_001372744.1:p.Tyr5Ser
NM_001385816.1:c.14A>C	NP_001372745.1:p.Tyr5Ser
NM_001385817.1:c.14A>C	NP_001372746.1:p.Tyr5Ser
NM_001385818.1:c.14A>C	NP_001372747.1:p.Tyr5Ser
NM_001385819.1:c.14A>C	NP_001372748.1:p.Tyr5Ser
NM_001385820.1:c.14A>C	NP_001372749.1:p.Tyr5Ser
NM_001385821.1:c.14A>C	NP_001372750.1:p.Tyr5Ser
NM_001385822.1:c.14A>C	NP_001372751.1:p.Tyr5Ser
NM_001385823.1:c.14A>C	NP_001372752.1:p.Tyr5Ser
NM_001385824.1:c.14A>C	NP_001372753.1:p.Tyr5Ser
NM_001385825.1:c.14A>C	NP_001372754.1:p.Tyr5Ser
NM_001385826.1:c.14A>C	NP_001372755.1:p.Tyr5Ser
NM_001385827.1:c.14A>C	NP_001372756.1:p.Tyr5Ser
NM_001385828.1:c.14A>C	NP_001372757.1:p.Tyr5Ser
NM_001385829.1:c.14A>C	NP_001372758.1:p.Tyr5Ser
NM_001385830.1:c.14A>C	NP_001372759.1:p.Tyr5Ser
NM_001385831.1:c.14A>C	NP_001372760.1:p.Tyr5Ser
NM_001385832.1:c.14A>C	NP_001372761.1:p.Tyr5Ser
NM_001385833.1:c.14A>C	NP_001372762.1:p.Tyr5Ser
NM_001385834.1:c.14A>C	NP_001372763.1:p.Tyr5Ser
NM_001385835.1:c.14A>C	NP_001372764.1:p.Tyr5Ser
NM_001385836.1:c.14A>C	NP_001372765.1:p.Tyr5Ser
NM_001385837.1:c.14A>C	NP_001372766.1:p.Tyr5Ser
NM_001385838.1:c.14A>C	NP_001372767.1:p.Tyr5Ser
NM_001385839.1:c.14A>C	NP_001372768.1:p.Tyr5Ser
NM_001385840.1:c.14A>C	NP_001372769.1:p.Tyr5Ser
NM_001385841.1:c.14A>C	NP_001372770.1:p.Tyr5Ser
NM_001385842.1:c.14A>C	NP_001372771.1:p.Tyr5Ser
NM_001385843.1:c.14A>C	NP_001372772.1:p.Tyr5Ser
NM_001385844.1:c.14A>C	NP_001372773.1:p.Tyr5Ser
NM_001385845.1:c.14A>C	NP_001372774.1:p.Tyr5Ser
NM_001385846.1:c.14A>C	NP_001372775.1:p.Tyr5Ser
NM_001385847.1:c.14A>C	NP_001372776.1:p.Tyr5Ser