Canonical Allele Identifier: CA303952514

Gene: CFD

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.860747G>C , CM000681.2:g.860747G>C	GRCh38
NC_000019.9:g.860747G>C , CM000681.1:g.860747G>C	GRCh37
NC_000019.8:g.811747G>C	NCBI36
NG_007274.1:g.6083G>C , LRG_46:g.6083G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001928.4:c.186G>C MANE Select	NP_001919.2:p.Leu62=
ENST00000327726.11:c.186G>C MANE Select	ENSP00000332139.4:p.Leu62=
NM_001317335.1:c.207G>C	NP_001304264.1:p.Leu69=
NM_001317335.2:c.207G>C	NP_001304264.1:p.Leu69=
NM_001928.2:c.186G>C , LRG_46t1:c.186G>C	NP_001919.2:p.Leu62=
NM_001928.3:c.186G>C	NP_001919.2:p.Leu62=
ENST00000327726.10:c.186G>C	ENSP00000332139.4:p.Leu62=
ENST00000592860.2:c.207G>C	ENSP00000468253.1:p.Leu69=
ENST00000592860.3:c.207G>C	ENSP00000468253.1:p.Leu69=
ENST00000695942.1:c.69G>C	ENSP00000512275.1:p.Leu23=
ENST00000695943.1:c.69G>C	ENSP00000512276.1:p.Leu23=
ENST00000695944.1:c.69G>C	ENSP00000512277.1:p.Leu23=
ENST00000695945.1:c.186G>C	ENSP00000512278.1:p.Leu62=