Canonical Allele Identifier: CA103685810

Gene: CFI

Linked Data

• dbSNP Id: rs545442189
• gnomAD v2: 4-110659048-G-A
• gnomAD v3: 4-109737892-G-A
• gnomAD v4: 4-109737892-G-A
• MyVariant Identifiers: chr4:g.110659048G>A (hg19) ; chr4:g.109737892G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.109737892G>A , CM000666.2:g.109737892G>A	GRCh38
NC_000004.11:g.110659048G>A , CM000666.1:g.110659048G>A	GRCh37
NC_000004.10:g.110878497G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695844.1:n.1714-3096C>T
ENST00000695845.1:n.1712+4599C>T
ENST00000645635.1:c.1534+4599C>T	ENSP00000493607.1:n.1534+4599C>T
XM_011531920.1:c.1558+4599C>T	XP_011530222.1:n.1558+4599C>T
XM_011531920.2:c.1558+4599C>T	XP_011530222.1:n.1558+4599C>T
XM_017008164.2:c.1534+4599C>T	XP_016863653.1:n.1534+4599C>T
XM_017008165.2:c.1513+4599C>T	XP_016863654.1:n.1513+4599C>T
XM_017008166.2:c.1535-3092C>T	XP_016863655.1:n.1535-3092C>T
NM_001375278.1:c.1559-3096C>T	NP_001362207.1:n.1559-3096C>T
NM_001375279.1:c.1535-3096C>T	NP_001362208.1:n.1535-3096C>T
NM_001375280.1:c.1514-3096C>T	NP_001362209.1:n.1514-3096C>T
NM_001375281.1:c.1534+4599C>T	NP_001362210.1:n.1534+4599C>T
NM_001375282.1:c.1513+4599C>T	NP_001362211.1:n.1513+4599C>T