Canonical Allele Identifier: CA402920670

Gene: CFD

Linked Data

• gnomAD v4: 19-860694-C-G
• MyVariant Identifiers: chr19:g.860694C>G (hg19) ; chr19:g.860694C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.860694C>G , CM000681.2:g.860694C>G	GRCh38
NC_000019.9:g.860694C>G , CM000681.1:g.860694C>G	GRCh37
NC_000019.8:g.811694C>G	NCBI36
NG_007274.1:g.6030C>G , LRG_46:g.6030C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000592860.3:c.154C>G	ENSP00000468253.1:p.Leu52Val
ENST00000695942.1:c.16C>G	ENSP00000512275.1:p.Leu6Val
ENST00000695943.1:c.16C>G	ENSP00000512276.1:p.Leu6Val
ENST00000695944.1:c.16C>G	ENSP00000512277.1:p.Leu6Val
ENST00000695945.1:c.133C>G	ENSP00000512278.1:p.Leu45Val
ENST00000327726.11:c.133C>G MANE Select	ENSP00000332139.4:p.Leu45Val
ENST00000327726.10:c.133C>G	ENSP00000332139.4:p.Leu45Val
ENST00000592860.2:c.154C>G	ENSP00000468253.1:p.Leu52Val
NM_001928.2:c.133C>G , LRG_46t1:c.133C>G	NP_001919.2:p.Leu45Val
NM_001317335.1:c.154C>G	NP_001304264.1:p.Leu52Val
NM_001928.3:c.133C>G	NP_001919.2:p.Leu45Val
NM_001317335.2:c.154C>G	NP_001304264.1:p.Leu52Val
NM_001928.4:c.133C>G MANE Select	NP_001919.2:p.Leu45Val