Canonical Allele Identifier: CA2557064

Gene: CFAP91

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.119715744G>A , CM000665.2:g.119715744G>A	GRCh38
NC_000003.11:g.119434591G>A , CM000665.1:g.119434591G>A	GRCh37
NC_000003.10:g.120917281G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_033364.4:c.682+1G>A MANE Select	NP_203528.3:n.682+1G>A
ENST00000273390.9:c.682+1G>A MANE Select	ENSP00000273390.5:n.682+1G>A
NM_001320316.1:c.622+1G>A	NP_001307245.1:n.622+1G>A
NM_001320316.2:c.622+1G>A	NP_001307245.2:n.622+1G>A
NM_001320317.1:c.496+1G>A	NP_001307246.1:n.496+1G>A
NM_001320317.2:c.496+1G>A	NP_001307246.2:n.496+1G>A
NM_001320318.1:c.304+1G>A	NP_001307247.1:n.304+1G>A
NM_001320318.2:c.304+1G>A	NP_001307247.2:n.304+1G>A
NM_033364.3:c.682+1G>A	NP_203528.2:n.682+1G>A
ENST00000463700.1:c.683G>A	ENSP00000419489.1:p.Gly228Asp
ENST00000468630.5:n.759+1G>A
ENST00000475093.5:c.*51+1G>A	ENSP00000419972.1:n.*51+1G>A
ENST00000482573.5:c.*461+1G>A	ENSP00000419520.1:n.*461+1G>A
ENST00000482927.5:c.*563+1G>A	ENSP00000418601.1:n.*563+1G>A
ENST00000483134.5:n.2034+1G>A
ENST00000498167.1:c.357+1G>A	ENSP00000419554.1:n.357+1G>A
ENST00000648112.1:c.682+1G>A	ENSP00000497876.1:n.682+1G>A
XM_011513275.1:c.622+1G>A	XP_011511577.1:n.622+1G>A
XM_011513276.1:c.496+1G>A	XP_011511578.1:n.496+1G>A
XM_011513277.1:c.304+1G>A	XP_011511579.1:n.304+1G>A
XM_011513278.1:c.682+1G>A	XP_011511580.1:n.682+1G>A
XR_001740354.1:n.751+1G>A
XR_001740355.1:n.751+1G>A
XR_924210.1:n.751+1G>A
XR_924211.1:n.751+1G>A