Canonical Allele Identifier: CA303955473

Gene: CFD

Linked Data

• dbSNP Id: rs188277685
• gnomAD v2: 19-863021-G-A
• gnomAD v3: 19-863021-G-A
• gnomAD v4: 19-863021-G-A
• MyVariant Identifiers: chr19:g.863021G>A (hg19) ; chr19:g.863021G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.863021G>A , CM000681.2:g.863021G>A	GRCh38
NC_000019.9:g.863021G>A , CM000681.1:g.863021G>A	GRCh37
NC_000019.8:g.814021G>A	NCBI36
NG_007274.1:g.8357G>A , LRG_46:g.8357G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000592860.3:c.637-71G>A	ENSP00000468253.1:n.637-71G>A
ENST00000695942.1:c.499-71G>A	ENSP00000512275.1:n.499-71G>A
ENST00000695943.1:c.499-71G>A	ENSP00000512276.1:n.499-71G>A
ENST00000695944.1:c.499-71G>A	ENSP00000512277.1:n.499-71G>A
ENST00000695945.1:c.565-71G>A	ENSP00000512278.1:n.565-71G>A
ENST00000695946.1:c.258+1065G>A	ENSP00000512279.1:n.258+1065G>A
ENST00000327726.11:c.616-71G>A MANE Select	ENSP00000332139.4:n.616-71G>A
ENST00000327726.10:c.616-71G>A	ENSP00000332139.4:n.616-71G>A
ENST00000592860.2:c.637-71G>A	ENSP00000468253.1:n.637-71G>A
NM_001928.2:c.616-71G>A , LRG_46t1:c.616-71G>A	NP_001919.2:n.616-71G>A
NM_001317335.1:c.637-71G>A	NP_001304264.1:n.637-71G>A
NM_001928.3:c.616-71G>A	NP_001919.2:n.616-71G>A
NM_001317335.2:c.637-71G>A	NP_001304264.1:n.637-71G>A
NM_001928.4:c.616-71G>A MANE Select	NP_001919.2:n.616-71G>A