Canonical Allele Identifier: CA277820063

Gene: RBFOX1

Linked Data

• dbSNP Id: rs930947373
• gnomAD v2: 16-6527370-G-T
• gnomAD v3: 16-6477369-G-T
• gnomAD v4: 16-6477369-G-T
• MyVariant Identifiers: chr16:g.6527370G>T (hg19) ; chr16:g.6477369G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.6477369G>T , CM000678.2:g.6477369G>T	GRCh38
NC_000016.9:g.6527370G>T , CM000678.1:g.6527370G>T	GRCh37
NC_000016.8:g.6467371G>T	NCBI36
NG_011881.1:g.463239G>T
NG_011881.2:g.1242618G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000550418.6:c.-64+160312G>T MANE Select	ENSP00000450031.1:n.-64+160312G>T
ENST00000569895.3:n.499+160312G>T
ENST00000641259.1:c.414+160312G>T	ENSP00000493041.1:n.414+160312G>T
ENST00000422070.8:c.66+160312G>T	ENSP00000391269.4:n.66+160312G>T
ENST00000547372.5:c.66+160312G>T	ENSP00000446842.1:n.66+160312G>T
ENST00000547605.5:c.-64+160312G>T	ENSP00000450402.1:n.-64+160312G>T
ENST00000548749.5:n.353+160312G>T
ENST00000550418.5:c.-64+160312G>T	ENSP00000450031.1:n.-64+160312G>T
ENST00000553186.5:c.-64+160312G>T	ENSP00000447753.1:n.-64+160312G>T
NM_001142333.1:c.-64+160312G>T	NP_001135805.1:n.-64+160312G>T
NM_001308117.1:c.66+160312G>T	NP_001295046.1:n.66+160312G>T
NM_018723.3:c.-64+160312G>T	NP_061193.2:n.-64+160312G>T
XM_005255379.2:c.66+160312G>T	XP_005255436.1:n.66+160312G>T
XM_005255384.2:c.-64+160312G>T	XP_005255441.1:n.-64+160312G>T
XM_005255390.2:c.-64+160312G>T	XP_005255447.1:n.-64+160312G>T
XM_011522544.1:c.414+160312G>T	XP_011520846.1:n.414+160312G>T
NM_001364800.1:c.-64+160312G>T	NP_001351729.1:n.-64+160312G>T
XM_005255390.4:c.-64+160312G>T	XP_005255447.1:n.-64+160312G>T
XM_017023318.2:c.534+160312G>T	XP_016878807.1:n.534+160312G>T
XM_017023319.2:c.534+160312G>T	XP_016878808.1:n.534+160312G>T
XM_017023320.2:c.66+160312G>T	XP_016878809.1:n.66+160312G>T
XM_017023324.2:c.66+160312G>T	XP_016878813.1:n.66+160312G>T
XM_017023326.2:c.-64+160312G>T	XP_016878815.1:n.-64+160312G>T
XM_017023328.2:c.66+160312G>T	XP_016878817.1:n.66+160312G>T
XM_017023329.2:c.66+160312G>T	XP_016878818.1:n.66+160312G>T
XM_017023335.2:c.-64+160312G>T	XP_016878824.1:n.-64+160312G>T
XM_017023341.2:c.-64+160312G>T	XP_016878830.1:n.-64+160312G>T
XM_024450303.1:c.495+160312G>T	XP_024306071.1:n.495+160312G>T
XM_024450307.1:c.-64+160312G>T	XP_024306075.1:n.-64+160312G>T
XM_024450309.1:c.66+160312G>T	XP_024306077.1:n.66+160312G>T
XM_024450310.1:c.66+160312G>T	XP_024306078.1:n.66+160312G>T
XM_024450314.1:c.66+160312G>T	XP_024306082.1:n.66+160312G>T
XM_024450316.1:c.-64+160312G>T	XP_024306084.1:n.-64+160312G>T
NM_001142333.2:c.-64+160312G>T	NP_001135805.1:n.-64+160312G>T
NM_001364800.2:c.-64+160312G>T	NP_001351729.1:n.-64+160312G>T
NM_018723.4:c.-64+160312G>T MANE Select	NP_061193.2:n.-64+160312G>T