Canonical Allele Identifier: CA2587806161

Gene: CFD

Linked Data

• gnomAD v4: 19-860605-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.860605G>C , CM000681.2:g.860605G>C	GRCh38
NC_000019.9:g.860605G>C , CM000681.1:g.860605G>C	GRCh37
NC_000019.8:g.811605G>C	NCBI36
NG_007274.1:g.5941G>C , LRG_46:g.5941G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000592860.3:c.77-12G>C	ENSP00000468253.1:n.77-12G>C
ENST00000695942.1:c.-62-12G>C	ENSP00000512275.1:n.-62-12G>C
ENST00000695943.1:c.-62-12G>C	ENSP00000512276.1:n.-62-12G>C
ENST00000695944.1:c.-62-12G>C	ENSP00000512277.1:n.-62-12G>C
ENST00000695945.1:c.56-12G>C	ENSP00000512278.1:n.56-12G>C
ENST00000327726.11:c.56-12G>C MANE Select	ENSP00000332139.4:n.56-12G>C
ENST00000327726.10:c.56-12G>C	ENSP00000332139.4:n.56-12G>C
ENST00000592860.2:c.77-12G>C	ENSP00000468253.1:n.77-12G>C
NM_001928.2:c.56-12G>C , LRG_46t1:c.56-12G>C	NP_001919.2:n.56-12G>C
NM_001317335.1:c.77-12G>C	NP_001304264.1:n.77-12G>C
NM_001928.3:c.56-12G>C	NP_001919.2:n.56-12G>C
NM_001317335.2:c.77-12G>C	NP_001304264.1:n.77-12G>C
NM_001928.4:c.56-12G>C MANE Select	NP_001919.2:n.56-12G>C