Canonical Allele Identifier: CA534153

Gene: CFAP74

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.1974047G>A , CM000663.2:g.1974047G>A	GRCh38
NC_000001.10:g.1905486G>A , CM000663.1:g.1905486G>A	GRCh37
NC_000001.9:g.1895346G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_001304360.2:c.652C>T MANE Select	NP_001291289.1:p.Arg218Trp
ENST00000682832.2:c.652C>T MANE Select	ENSP00000508276.2:p.Arg218Trp
NM_001304360.1:c.652C>T	NP_001291289.1:p.Arg218Trp
ENST00000270720.11:n.808C>T
ENST00000468610.5:n.685C>T
ENST00000493964.5:c.652C>T	ENSP00000417061.2:p.Arg218Trp
XM_006710998.2:c.394C>T	XP_006711061.1:p.Arg132Trp
XM_011542331.1:c.652C>T	XP_011540633.1:p.Arg218Trp
XM_011542332.1:c.652C>T	XP_011540634.1:p.Arg218Trp
XM_011542333.1:c.409C>T	XP_011540635.1:p.Arg137Trp
XM_011542333.2:c.721C>T	XP_011540635.2:p.Arg241Trp
XM_011542334.1:c.166C>T	XP_011540636.1:p.Arg56Trp
XM_011542335.1:c.145C>T	XP_011540637.1:p.Arg49Trp
XM_011542336.1:c.145C>T	XP_011540638.1:p.Arg49Trp
XM_011542336.3:c.145C>T	XP_011540638.1:p.Arg49Trp
XM_011542337.1:c.145C>T	XP_011540639.1:p.Arg49Trp
XM_017002641.1:c.778C>T	XP_016858130.1:p.Arg260Trp
XM_017002642.1:c.778C>T	XP_016858131.1:p.Arg260Trp
XM_017002643.1:c.778C>T	XP_016858132.1:p.Arg260Trp