Canonical Allele Identifier: CA402920682

Gene: CFD

Linked Data

• gnomAD v4: 19-860700-G-T
• MyVariant Identifiers: chr19:g.860700G>T (hg19) ; chr19:g.860700G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.860700G>T , CM000681.2:g.860700G>T	GRCh38
NC_000019.9:g.860700G>T , CM000681.1:g.860700G>T	GRCh37
NC_000019.8:g.811700G>T	NCBI36
NG_007274.1:g.6036G>T , LRG_46:g.6036G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000592860.3:c.160G>T	ENSP00000468253.1:p.Gly54Cys
ENST00000695942.1:c.22G>T	ENSP00000512275.1:p.Gly8Cys
ENST00000695943.1:c.22G>T	ENSP00000512276.1:p.Gly8Cys
ENST00000695944.1:c.22G>T	ENSP00000512277.1:p.Gly8Cys
ENST00000695945.1:c.139G>T	ENSP00000512278.1:p.Gly47Cys
ENST00000327726.11:c.139G>T MANE Select	ENSP00000332139.4:p.Gly47Cys
ENST00000327726.10:c.139G>T	ENSP00000332139.4:p.Gly47Cys
ENST00000592860.2:c.160G>T	ENSP00000468253.1:p.Gly54Cys
NM_001928.2:c.139G>T , LRG_46t1:c.139G>T	NP_001919.2:p.Gly47Cys
NM_001317335.1:c.160G>T	NP_001304264.1:p.Gly54Cys
NM_001928.3:c.139G>T	NP_001919.2:p.Gly47Cys
NM_001317335.2:c.160G>T	NP_001304264.1:p.Gly54Cys
NM_001928.4:c.139G>T MANE Select	NP_001919.2:p.Gly47Cys