Canonical Allele Identifier: CA402923550

Gene: CFD

Linked Data

• gnomAD v4: 19-863116-T-G
• MyVariant Identifiers: chr19:g.863116T>G (hg19) ; chr19:g.863116T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.863116T>G , CM000681.2:g.863116T>G	GRCh38
NC_000019.9:g.863116T>G , CM000681.1:g.863116T>G	GRCh37
NC_000019.8:g.814116T>G	NCBI36
NG_007274.1:g.8452T>G , LRG_46:g.8452T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000592860.3:c.661T>G	ENSP00000468253.1:p.Cys221Gly
ENST00000695942.1:c.523T>G	ENSP00000512275.1:p.Cys175Gly
ENST00000695943.1:c.523T>G	ENSP00000512276.1:p.Cys175Gly
ENST00000695944.1:c.523T>G	ENSP00000512277.1:p.Cys175Gly
ENST00000695945.1:c.589T>G	ENSP00000512278.1:p.Cys197Gly
ENST00000695946.1:c.258+1160T>G	ENSP00000512279.1:n.258+1160T>G
ENST00000327726.11:c.640T>G MANE Select	ENSP00000332139.4:p.Cys214Gly
ENST00000327726.10:c.640T>G	ENSP00000332139.4:p.Cys214Gly
ENST00000592860.2:c.661T>G	ENSP00000468253.1:p.Cys221Gly
NM_001928.2:c.640T>G , LRG_46t1:c.640T>G	NP_001919.2:p.Cys214Gly
NM_001317335.1:c.661T>G	NP_001304264.1:p.Cys221Gly
NM_001928.3:c.640T>G	NP_001919.2:p.Cys214Gly
NM_001317335.2:c.661T>G	NP_001304264.1:p.Cys221Gly
NM_001928.4:c.640T>G MANE Select	NP_001919.2:p.Cys214Gly