Canonical Allele Identifier: CA303951248

Gene: CFD

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.859697G>T , CM000681.2:g.859697G>T	GRCh38
NC_000019.9:g.859697G>T , CM000681.1:g.859697G>T	GRCh37
NC_000019.8:g.810697G>T	NCBI36
NG_007274.1:g.5033G>T , LRG_46:g.5033G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001928.4:c.8G>T MANE Select	NP_001919.2:p.Ser3Ile
ENST00000327726.11:c.8G>T MANE Select	ENSP00000332139.4:p.Ser3Ile
NM_001317335.1:c.8G>T	NP_001304264.1:p.Ser3Ile
NM_001317335.2:c.8G>T	NP_001304264.1:p.Ser3Ile
NM_001928.2:c.8G>T , LRG_46t1:c.8G>T	NP_001919.2:p.Ser3Ile
NM_001928.3:c.8G>T	NP_001919.2:p.Ser3Ile
ENST00000327726.10:c.8G>T	ENSP00000332139.4:p.Ser3Ile
ENST00000592860.2:c.8G>T	ENSP00000468253.1:p.Ser3Ile
ENST00000592860.3:c.8G>T	ENSP00000468253.1:p.Ser3Ile
ENST00000695942.1:c.-63+165G>T	ENSP00000512275.1:n.-63+165G>T
ENST00000695943.1:c.-63+181G>T	ENSP00000512276.1:n.-63+181G>T
ENST00000695944.1:c.-201G>T	ENSP00000512277.1:n.-201G>T
ENST00000695945.1:c.8G>T	ENSP00000512278.1:p.Ser3Ile