Canonical Allele Identifier: CA16855926

Gene: CFAP74

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.1927024C>T , CM000663.2:g.1927024C>T	GRCh38
NC_000001.10:g.1858463C>T , CM000663.1:g.1858463C>T	GRCh37
NC_000001.9:g.1848323C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_001304360.2:c.3532G>A MANE Select	NP_001291289.1:p.Asp1178Asn
ENST00000682832.2:c.3532G>A MANE Select	ENSP00000508276.2:p.Asp1178Asn
NM_001304360.1:c.3532G>A	NP_001291289.1:p.Asp1178Asn
ENST00000412120.2:n.380G>A
ENST00000464311.5:n.906G>A
ENST00000493964.5:c.3532G>A	ENSP00000417061.2:p.Asp1178Asn
ENST00000642590.1:c.1782G>A
XM_006710998.2:c.3274G>A	XP_006711061.1:p.Asp1092Asn
XM_011542331.1:c.3532G>A	XP_011540633.1:p.Asp1178Asn
XM_011542332.1:c.3532G>A	XP_011540634.1:p.Asp1178Asn
XM_011542333.1:c.3289G>A	XP_011540635.1:p.Asp1097Asn
XM_011542333.2:c.3601G>A	XP_011540635.2:p.Asp1201Asn
XM_011542334.1:c.3046G>A	XP_011540636.1:p.Asp1016Asn
XM_011542335.1:c.3025G>A	XP_011540637.1:p.Asp1009Asn
XM_011542336.1:c.3025G>A	XP_011540638.1:p.Asp1009Asn
XM_011542336.3:c.3025G>A	XP_011540638.1:p.Asp1009Asn
XM_011542337.1:c.3025G>A	XP_011540639.1:p.Asp1009Asn
XM_011542338.1:c.1894G>A	XP_011540640.1:p.Asp632Asn
XM_017002641.1:c.3658G>A	XP_016858130.1:p.Asp1220Asn
XM_017002642.1:c.3658G>A	XP_016858131.1:p.Asp1220Asn
XM_017002643.1:c.3658G>A	XP_016858132.1:p.Asp1220Asn
XM_017002644.2:c.1090G>A	XP_016858133.1:p.Asp364Asn