Canonical Allele Identifier: CA103686809

Gene: CFI

Linked Data

• dbSNP Id: rs976752267
• gnomAD v4: 4-109740571-A-G
• MyVariant Identifiers: chr4:g.110661727A>G (hg19) ; chr4:g.109740571A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.109740571A>G , CM000666.2:g.109740571A>G	GRCh38
NC_000004.11:g.110661727A>G , CM000666.1:g.110661727A>G	GRCh37
NC_000004.10:g.110881176A>G	NCBI36
NG_007569.1:g.66415T>C , LRG_48:g.66415T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695844.1:n.1713+1920T>C
ENST00000695845.1:n.1712+1920T>C
ENST00000645635.1:c.1534+1920T>C	ENSP00000493607.1:n.1534+1920T>C
XM_011531920.1:c.1558+1920T>C	XP_011530222.1:n.1558+1920T>C
XM_011531920.2:c.1558+1920T>C	XP_011530222.1:n.1558+1920T>C
XM_017008164.2:c.1534+1920T>C	XP_016863653.1:n.1534+1920T>C
XM_017008165.2:c.1513+1920T>C	XP_016863654.1:n.1513+1920T>C
XM_017008166.2:c.1534+1920T>C	XP_016863655.1:n.1534+1920T>C
NM_001375278.1:c.1558+1920T>C	NP_001362207.1:n.1558+1920T>C
NM_001375279.1:c.1534+1920T>C	NP_001362208.1:n.1534+1920T>C
NM_001375280.1:c.1513+1920T>C	NP_001362209.1:n.1513+1920T>C
NM_001375281.1:c.1534+1920T>C	NP_001362210.1:n.1534+1920T>C
NM_001375282.1:c.1513+1920T>C	NP_001362211.1:n.1513+1920T>C