Canonical Allele Identifier: CA504881828

Gene: CFD

Linked Data

• dbSNP Id: rs1842459635
• gnomAD v4: 19-860702-C-T
• MyVariant Identifiers: chr19:g.860702C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.860702C>T , CM000681.2:g.860702C>T	GRCh38
NC_000019.9:g.860702C>T , CM000681.1:g.860702C>T	GRCh37
NC_000019.8:g.811702C>T	NCBI36
NG_007274.1:g.6038C>T , LRG_46:g.6038C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000592860.3:c.162C>T	ENSP00000468253.1:p.Gly54=
ENST00000695942.1:c.24C>T	ENSP00000512275.1:p.Gly8=
ENST00000695943.1:c.24C>T	ENSP00000512276.1:p.Gly8=
ENST00000695944.1:c.24C>T	ENSP00000512277.1:p.Gly8=
ENST00000695945.1:c.141C>T	ENSP00000512278.1:p.Gly47=
ENST00000327726.11:c.141C>T MANE Select	ENSP00000332139.4:p.Gly47=
ENST00000327726.10:c.141C>T	ENSP00000332139.4:p.Gly47=
ENST00000592860.2:c.162C>T	ENSP00000468253.1:p.Gly54=
NM_001928.2:c.141C>T , LRG_46t1:c.141C>T	NP_001919.2:p.Gly47=
NM_001317335.1:c.162C>T	NP_001304264.1:p.Gly54=
NM_001928.3:c.141C>T	NP_001919.2:p.Gly47=
NM_001317335.2:c.162C>T	NP_001304264.1:p.Gly54=
NM_001928.4:c.141C>T MANE Select	NP_001919.2:p.Gly47=