Canonical Allele Identifier: CA348160191

Gene: CFAP221

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.119647051G>A , CM000664.2:g.119647051G>A	GRCh38
NC_000002.11:g.120404627G>A , CM000664.1:g.120404627G>A	GRCh37
NC_000002.10:g.120121097G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_001271049.2:c.2318+1G>A MANE Select	NP_001257978.2:n.2318+1G>A
ENST00000413369.8:c.2318+1G>A MANE Select	ENSP00000393222.2:n.2318+1G>A
NM_001271049.1:c.2318+1G>A	NP_001257978.1:n.2318+1G>A
NR_073132.1:n.2589+1G>A
NR_073132.2:n.2572+1G>A
ENST00000295220.10:c.*1653+1G>A	ENSP00000295220.7:n.*1653+1G>A
ENST00000413369.7:c.2318+1G>A	ENSP00000393222.2:n.2318+1G>A
ENST00000434869.1:c.241+1G>A
ENST00000443972.5:c.994+1G>A
XM_006712353.2:c.2318+1G>A	XP_006712416.1:n.2318+1G>A
XM_006712353.3:c.2318+1G>A	XP_006712416.1:n.2318+1G>A
XM_011510765.1:c.2318+1G>A	XP_011509067.1:n.2318+1G>A
XM_011510766.1:c.2318+1G>A	XP_011509068.1:n.2318+1G>A
XM_011510767.1:c.2318+1G>A	XP_011509069.1:n.2318+1G>A
XM_011510768.1:c.1835+1G>A	XP_011509070.1:n.1835+1G>A
XM_017003550.1:c.2318+1G>A	XP_016859039.1:n.2318+1G>A
XM_017003551.1:c.2318+1G>A	XP_016859040.1:n.2318+1G>A
XM_017003552.1:c.2318+1G>A	XP_016859041.1:n.2318+1G>A
XM_017003553.2:c.2318+1G>A	XP_016859042.1:n.2318+1G>A
XM_017003554.1:c.1850+1G>A	XP_016859043.1:n.1850+1G>A
XM_017003555.1:c.1850+1G>A	XP_016859044.1:n.1850+1G>A
XM_017003556.1:c.1835+1G>A	XP_016859045.1:n.1835+1G>A
XM_017003557.1:c.1835+1G>A	XP_016859046.1:n.1835+1G>A
XM_017003559.1:c.1463+1G>A	XP_016859048.1:n.1463+1G>A
XR_001738664.1:n.2459+1G>A
XR_001738665.1:n.2391+1G>A