Canonical Allele Identifier: CA402920474

Gene: CFD

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.859751A>C , CM000681.2:g.859751A>C	GRCh38
NC_000019.9:g.859751A>C , CM000681.1:g.859751A>C	GRCh37
NC_000019.8:g.810751A>C	NCBI36
NG_007274.1:g.5087A>C , LRG_46:g.5087A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001928.4:c.55+7A>C MANE Select	NP_001919.2:n.55+7A>C
ENST00000327726.11:c.55+7A>C MANE Select	ENSP00000332139.4:n.55+7A>C
NM_001317335.1:c.62A>C	NP_001304264.1:p.Glu21Ala
NM_001317335.2:c.62A>C	NP_001304264.1:p.Glu21Ala
NM_001928.2:c.55+7A>C , LRG_46t1:c.55+7A>C	NP_001919.2:n.55+7A>C
NM_001928.3:c.55+7A>C	NP_001919.2:n.55+7A>C
ENST00000327726.10:c.55+7A>C	ENSP00000332139.4:n.55+7A>C
ENST00000592860.2:c.62A>C	ENSP00000468253.1:p.Glu21Ala
ENST00000592860.3:c.62A>C	ENSP00000468253.1:p.Glu21Ala
ENST00000695942.1:c.-63+219A>C	ENSP00000512275.1:n.-63+219A>C
ENST00000695943.1:c.-63+235A>C	ENSP00000512276.1:n.-63+235A>C
ENST00000695944.1:c.-147A>C	ENSP00000512277.1:n.-147A>C
ENST00000695945.1:c.55+7A>C	ENSP00000512278.1:n.55+7A>C