Canonical Allele Identifier: CA256211
Gene: CFI HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 12121
ClinVar RCV Id: RCV000012904
dbSNP Id: rs121964913

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.109746231G>A , CM000666.2:g.109746231G>A GRCh38
NC_000004.11:g.110667387G>A , CM000666.1:g.110667387G>A GRCh37
NC_000004.10:g.110886836G>A NCBI36
NG_007569.1:g.60755C>T , LRG_48:g.60755C>T

Transcript Alleles

HGVS Amino-acid change
NM_000204.3:c.1420C>T , LRG_48t1:c.1420C>T NP_000195.2:p.Arg474Ter
XM_005262975.1:c.1444C>T XP_005263032.1:p.Arg482Ter
XM_005262976.1:c.1399C>T XP_005263033.1:p.Arg467Ter
XM_006714209.1:c.1441C>T XP_006714272.1:p.Arg481Ter
XM_006714210.2:c.1444C>T XP_006714273.1:p.Arg482Ter
XM_011531920.1:c.1444C>T XP_011530222.1:p.Arg482Ter
NM_000204.4:c.1420C>T VV
NM_001318057.1:c.1444C>T VV NP_001304986.1:p.Arg482Ter
NM_001331035.1:c.1399C>T VV NP_001317964.1:p.Arg467Ter
XM_006714210.4:c.1444C>T
XM_011531920.2:c.1444C>T
XM_017008164.2:c.1420C>T XP_016863653.1:p.Arg474Ter
XM_017008165.2:c.1399C>T XP_016863654.1:p.Arg467Ter
XM_017008166.2:c.1420C>T XP_016863655.1:p.Arg474Ter
ENST00000394634.6:c.1420C>T ENSP00000378130.2:p.Arg474Ter
ENST00000394635.7:c.1444C>T ENSP00000378131.3:p.Arg482Ter
ENST00000504853.3:n.1837C>T
ENST00000512148.5:c.1399C>T ENSP00000427438.1:p.Arg467Ter
ENST00000515512.1:n.62C>T
ENST00000618244.4:c.1044+3268C>T ENSP00000483416.1:p.=