Canonical Allele Identifier: CA11026992

Gene: CFAP221

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.119564241A>G , CM000664.2:g.119564241A>G	GRCh38
NC_000002.11:g.120321817A>G , CM000664.1:g.120321817A>G	GRCh37
NC_000002.10:g.120038287A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000413369.8:c.527+2127A>G MANE Select	ENSP00000393222.2:n.527+2127A>G
ENST00000295220.10:c.527+2127A>G	ENSP00000295220.7:n.527+2127A>G
ENST00000413057.6:c.*264+2127A>G	ENSP00000391760.2:n.*264+2127A>G
ENST00000413369.7:c.527+2127A>G	ENSP00000393222.2:n.527+2127A>G
ENST00000488358.1:n.124+4215A>G
ENST00000594371.1:c.496+2127A>G
ENST00000598644.5:c.527+2127A>G	ENSP00000472563.1:n.527+2127A>G
NM_001271049.1:c.527+2127A>G	NP_001257978.1:n.527+2127A>G
NR_073132.1:n.653+2127A>G
NR_073133.1:n.552+2127A>G
XM_006712353.2:c.527+2127A>G	XP_006712416.1:n.527+2127A>G
XM_011510765.1:c.527+2127A>G	XP_011509067.1:n.527+2127A>G
XM_011510766.1:c.527+2127A>G	XP_011509068.1:n.527+2127A>G
XM_011510767.1:c.527+2127A>G	XP_011509069.1:n.527+2127A>G
XM_011510768.1:c.44+4215A>G	XP_011509070.1:n.44+4215A>G
XM_011510769.1:c.527+2127A>G	XP_011509071.1:n.527+2127A>G
XR_922883.1:n.662+2127A>G
XM_006712353.3:c.527+2127A>G	XP_006712416.1:n.527+2127A>G
XM_017003550.1:c.527+2127A>G	XP_016859039.1:n.527+2127A>G
XM_017003551.1:c.527+2127A>G	XP_016859040.1:n.527+2127A>G
XM_017003552.1:c.527+2127A>G	XP_016859041.1:n.527+2127A>G
XM_017003553.2:c.527+2127A>G	XP_016859042.1:n.527+2127A>G
XM_017003554.1:c.59+2127A>G	XP_016859043.1:n.59+2127A>G
XM_017003555.1:c.59+2127A>G	XP_016859044.1:n.59+2127A>G
XM_017003556.1:c.44+4215A>G	XP_016859045.1:n.44+4215A>G
XM_017003557.1:c.44+4215A>G	XP_016859046.1:n.44+4215A>G
XM_017003558.1:c.527+2127A>G	XP_016859047.1:n.527+2127A>G
XM_017003559.1:c.-1714+2127A>G	XP_016859048.1:n.-1714+2127A>G
XR_001738664.1:n.672+2127A>G
XR_001738665.1:n.672+2127A>G
XR_922883.3:n.693+2127A>G
NM_001271049.2:c.527+2127A>G MANE Select	NP_001257978.2:n.527+2127A>G
NR_073132.2:n.636+2127A>G
NR_073133.2:n.535+2127A>G